Galactosidase Alpha (GLa)
GALA; GL-A; Alpha-D-Galactoside Galactohydrolase; Alpha-D-Galactosidase A; Melibiase; Agalsidase
Alpha-galactosidase is a glycoside hydrolase enzyme that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. It is encoded by the GLA gene. This enzyme is a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. It predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry's disease, a rare lysosomal storage disorder and sphingolipidosis that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. Genzyme produces synthetic agalsidase beta under the brand name Fabrazyme for treatment of Fabry's disease.
Organism species: Homo sapiens (Human)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | W545Hu01 | Recombinant Galactosidase Alpha (GLa) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Galactosidase Alpha (GLa) | Bioactivity | |
| Antibodies | MW545Hu22 | Monoclonal Antibody to Galactosidase Alpha (GLa) | WB; IHC; ICC; IP. |
| PW545Hu01 | Polyclonal Antibody to Galactosidase Alpha (GLa) | WB; IHC; ICC; IF. | |
| LW545Hu71 | Biotin Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Flow Cytometry | |
| LW545Hu82 | FITC Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Flow Cytometry;ICC/IF | |
| Assay Kits | KEW545Hu | ELISA Kit for Galactosidase Alpha (GLa) | Enzyme-linked immunosorbent assay for Antigen Detection |
| KCW545Hu | CLIA kit for Galactosidase Alpha (GLa) | CLIA assay for Antigen Detection |
Organism species: Mus musculus (Mouse)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | W545Mu01 | Recombinant Galactosidase Alpha (GLa) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Galactosidase Alpha (GLa) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Galactosidase Alpha (GLa) | WB; IHC; ICC; IP. |
| PW545Mu01 | Polyclonal Antibody to Galactosidase Alpha (GLa) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Galactosidase Alpha (GLa) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Galactosidase Alpha (GLa) | CLIA assay for Antigen Detection |
Organism species: Rattus norvegicus (Rat)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Galactosidase Alpha (GLa) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Galactosidase Alpha (GLa) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Galactosidase Alpha (GLa) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Galactosidase Alpha (GLa) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Galactosidase Alpha (GLa) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Galactosidase Alpha (GLa) | CLIA assay for Antigen Detection |
Organism species: Canis familiaris; Canine (Dog)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Galactosidase Alpha (GLa) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Galactosidase Alpha (GLa) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Galactosidase Alpha (GLa) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Galactosidase Alpha (GLa) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Galactosidase Alpha (GLa) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Galactosidase Alpha (GLa) | CLIA assay for Antigen Detection |
Organism species: Sus scrofa; Porcine (Pig)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Galactosidase Alpha (GLa) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Galactosidase Alpha (GLa) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Galactosidase Alpha (GLa) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Galactosidase Alpha (GLa) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Galactosidase Alpha (GLa) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Galactosidase Alpha (GLa) | CLIA assay for Antigen Detection |
Organism species: Bos taurus; Bovine (Cattle)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Galactosidase Alpha (GLa) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Galactosidase Alpha (GLa) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Galactosidase Alpha (GLa) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Galactosidase Alpha (GLa) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Galactosidase Alpha (GLa) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Galactosidase Alpha (GLa) | CLIA assay for Antigen Detection |
Organism species: Rhesus monkey (Simian)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Galactosidase Alpha (GLa) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Galactosidase Alpha (GLa) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Galactosidase Alpha (GLa) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Galactosidase Alpha (GLa) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Galactosidase Alpha (GLa) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Galactosidase Alpha (GLa) | CLIA assay for Antigen Detection |
Organism species: Chicken (Gallus)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Galactosidase Alpha (GLa) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Galactosidase Alpha (GLa) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Galactosidase Alpha (GLa) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Galactosidase Alpha (GLa) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Galactosidase Alpha (GLa) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Galactosidase Alpha (GLa) | CLIA assay for Antigen Detection |
Organism species: Ovis aries; Ovine (Sheep)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Galactosidase Alpha (GLa) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Galactosidase Alpha (GLa) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Galactosidase Alpha (GLa) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Galactosidase Alpha (GLa) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Galactosidase Alpha (GLa) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Galactosidase Alpha (GLa) | CLIA assay for Antigen Detection |
Organism species: Oryctolagus cuniculus (Rabbit)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Galactosidase Alpha (GLa) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Galactosidase Alpha (GLa) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Galactosidase Alpha (GLa) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Galactosidase Alpha (GLa) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Galactosidase Alpha (GLa) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Galactosidase Alpha (GLa) | CLIA assay for Antigen Detection |
Organism species: Cavia (Guinea pig )
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Galactosidase Alpha (GLa) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Galactosidase Alpha (GLa) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Galactosidase Alpha (GLa) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Galactosidase Alpha (GLa) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Galactosidase Alpha (GLa) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Galactosidase Alpha (GLa) | CLIA assay for Antigen Detection |
Organism species: Equus caballus; Equine (Horse)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Galactosidase Alpha (GLa) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Galactosidase Alpha (GLa) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Galactosidase Alpha (GLa) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Galactosidase Alpha (GLa) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Galactosidase Alpha (GLa) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Galactosidase Alpha (GLa) | CLIA assay for Antigen Detection |
Organism species: Capra hircus; Caprine (Goat)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Galactosidase Alpha (GLa) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Galactosidase Alpha (GLa) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Galactosidase Alpha (GLa) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Galactosidase Alpha (GLa) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Galactosidase Alpha (GLa) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Galactosidase Alpha (GLa) | CLIA assay for Antigen Detection |
Organism species: Pan-species (General)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Galactosidase Alpha (GLa) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Galactosidase Alpha (GLa) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Galactosidase Alpha (GLa) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Galactosidase Alpha (GLa) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Galactosidase Alpha (GLa) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Galactosidase Alpha (GLa) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Galactosidase Alpha (GLa) | CLIA assay for Antigen Detection |
Reference
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"Nucleotide sequence of the human alpha-galactosidase A gene."
Nucleic Acids Res. 17:3301-3302(1989) [PubMed] [Europe PMC] [Abstract]
"Sixty-nine kilobases of contiguous human genomic sequence containing the alpha-galactosidase A and Bruton's tyrosine kinase loci."
Mamm. Genome 6:334-338(1995) [PubMed] [Europe PMC] [Abstract]
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Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
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Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
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Gene 58:177-188(1987) [PubMed] [Europe PMC] [Abstract]
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"Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease."
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"Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease."
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"Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease."
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"Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene."
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"Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease."
Biochem. Biophys. Res. Commun. 214:1219-1224(1995) [PubMed] [Europe PMC] [Abstract]
"Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins."
Hum. Genet. 95:557-561(1995) [PubMed] [Europe PMC] [Abstract]
"Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease."
Hum. Mutat. 5:277-278(1995) [PubMed] [Europe PMC] [Abstract]
"An atypical variant of Fabry's disease in men with left ventricular hypertrophy."
N. Engl. J. Med. 333:288-293(1995) [PubMed] [Europe PMC] [Abstract]
"Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy."
Clin. Nephrol. 45:289-294(1996) [PubMed] [Europe PMC] [Abstract]
"Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries."
Eur. J. Hum. Genet. 4:219-224(1996) [PubMed] [Europe PMC] [Abstract]
"Novel trinucleotide deletion in Fabry's disease."
Hum. Genet. 97:468-470(1996) [PubMed] [Europe PMC] [Abstract]
"Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the alpha-galactosidase A gene and detection of carriers in Fabry disease."
Hum. Genet. 98:719-726(1996) [PubMed] [Europe PMC] [Abstract]
"A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene."
Hum. Mutat. 8:38-43(1996) [PubMed] [Europe PMC] [Abstract]
"Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene."
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"Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis."
Brain Dev. 19:111-116(1997) [PubMed] [Europe PMC] [Abstract]
"Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes."
Mol. Med. 3:174-182(1997) [PubMed] [Europe PMC] [Abstract]
"Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease."
Hum. Mutat. 11:328-330(1998) [PubMed] [Europe PMC] [Abstract]
"A novel mutation (E358K) in the alpha-galactosidase A gene detected in a Japanese family with Fabry disease."
Hum. Mutat. Suppl. 1:S139-S140(1998) [PubMed] [Europe PMC] [Abstract]
"Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote."
Hum. Mutat. Suppl. 1:S213-S216(1998) [PubMed] [Europe PMC] [Abstract]
"Mutation analysis in 11 French patients with Fabry disease."
Hum. Mutat. Suppl. 1:S288-S290(1998) [PubMed] [Europe PMC] [Abstract]
"Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches."
Biochem. Biophys. Res. Commun. 257:708-713(1999) [PubMed] [Europe PMC] [Abstract]
"The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the alpha-galactosidase A."
Clin. Chim. Acta 280:81-89(1999) [PubMed] [Europe PMC] [Abstract]
"Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease."
Biochim. Biophys. Acta 1501:227-235(2000) [PubMed] [Europe PMC] [Abstract]
"Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease."
Mol. Med. 5:806-811(1999) [PubMed] [Europe PMC] [Abstract]
"Identification of four novel mutations in five unrelated Korean families with Fabry disease."
Clin. Genet. 58:228-233(2000) [PubMed] [Europe PMC] [Abstract]
"Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes."
J. Invest. Med. 48:227-235(2000) [PubMed] [Europe PMC] [Abstract]
"Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease."
Hum. Mutat. 17:353-353(2001) [PubMed] [Europe PMC] [Abstract]
"Fabry disease: 20 novel GLA mutations in 35 families."
Hum. Mutat. 18:459-459(2001) [PubMed] [Europe PMC] [Abstract]
"Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course."
Medicine (Baltimore) 81:122-138(2002) [PubMed] [Europe PMC] [Abstract]
"Two novel mutations in the alpha-galactosidase A gene in Chinese patients with Fabry disease."
Clin. Genet. 63:205-209(2003) [PubMed] [Europe PMC] [Abstract]
"Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease."
Clin. Genet. 63:476-482(2003) [PubMed] [Europe PMC] [Abstract]
"Remarkable variability in renal disease in a large Slovenian family with Fabry disease."
Eur. J. Hum. Genet. 12:678-681(2004) [PubMed] [Europe PMC] [Abstract]
"Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography."
Hum. Mutat. 25:299-305(2005) [PubMed] [Europe PMC] [Abstract]
"Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome."
Arch. Neurol. 63:453-457(2006) [PubMed] [Europe PMC] [Abstract]
"Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A)."
Hum. Mutat. 30:1397-1405(2009) [PubMed] [Europe PMC] [Abstract]