Hexosaminidase A Alpha (HEXa)
TSD; Hex-A; Tay Sachs Disease; GM2 Gangliosidosis; Beta-Hexosaminidase Subunit Alpha; Beta-N-Acetylhexosaminidase Subunit Alpha; N-Acetyl-Beta-Glucosaminidase Alpha
Hexosaminidase A (alpha polypeptide), is an enzyme that is encoded by the HEXA gene.β-hexosaminidase occurs as two major isozymes: hexosaminidase A and hexosaminidase B. Hexosaminidase A and the cofactor GM2 activator protein catalyze the degradation of the GM2 gangliosides and other molecules containing terminal N-acetyl hexosamines. Hexosaminidase A is a heterodimer composed of an alpha and beta subunit. The alpha subunit is encoded by the HEXA gene while the beta subunit is encoded by the HEXB gene. Gene mutations in the gene encoding the beta subunit (HEXB) often result in Sandhoff disease; whereas, mutations in the gene encoding the alpha subunit (HEXA, this gene) decrease the hydrolysis of GM2 gangliosides, which is the main cause of Tay-Sachs disease.
Organism species: Homo sapiens (Human)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | W544Hu01 | Recombinant Hexosaminidase A Alpha (HEXa) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Hexosaminidase A Alpha (HEXa) | Bioactivity | |
| Antibodies | MW544Hu22 | Monoclonal Antibody to Hexosaminidase A Alpha (HEXa) | WB; IHC; ICC; IP. |
| PW544Hu01 | Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Flow Cytometry;ICC/IF | |
| Assay Kits | KEW544Hu | ELISA Kit for Hexosaminidase A Alpha (HEXa) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Hexosaminidase A Alpha (HEXa) | CLIA assay for Antigen Detection |
Organism species: Mus musculus (Mouse)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | W544Mu02 | Recombinant Hexosaminidase A Alpha (HEXa) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Hexosaminidase A Alpha (HEXa) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Hexosaminidase A Alpha (HEXa) | WB; IHC; ICC; IP. |
| PW544Mu01 | Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Hexosaminidase A Alpha (HEXa) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Hexosaminidase A Alpha (HEXa) | CLIA assay for Antigen Detection |
Organism species: Rattus norvegicus (Rat)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Hexosaminidase A Alpha (HEXa) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Hexosaminidase A Alpha (HEXa) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Hexosaminidase A Alpha (HEXa) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Hexosaminidase A Alpha (HEXa) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Hexosaminidase A Alpha (HEXa) | CLIA assay for Antigen Detection |
Organism species: Canis familiaris; Canine (Dog)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Hexosaminidase A Alpha (HEXa) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Hexosaminidase A Alpha (HEXa) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Hexosaminidase A Alpha (HEXa) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Hexosaminidase A Alpha (HEXa) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Hexosaminidase A Alpha (HEXa) | CLIA assay for Antigen Detection |
Organism species: Sus scrofa; Porcine (Pig)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Hexosaminidase A Alpha (HEXa) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Hexosaminidase A Alpha (HEXa) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Hexosaminidase A Alpha (HEXa) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Hexosaminidase A Alpha (HEXa) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Hexosaminidase A Alpha (HEXa) | CLIA assay for Antigen Detection |
Organism species: Bos taurus; Bovine (Cattle)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Hexosaminidase A Alpha (HEXa) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Hexosaminidase A Alpha (HEXa) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Hexosaminidase A Alpha (HEXa) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Hexosaminidase A Alpha (HEXa) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Hexosaminidase A Alpha (HEXa) | CLIA assay for Antigen Detection |
Organism species: Rhesus monkey (Simian)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Hexosaminidase A Alpha (HEXa) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Hexosaminidase A Alpha (HEXa) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Hexosaminidase A Alpha (HEXa) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Hexosaminidase A Alpha (HEXa) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Hexosaminidase A Alpha (HEXa) | CLIA assay for Antigen Detection |
Organism species: Chicken (Gallus)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Hexosaminidase A Alpha (HEXa) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Hexosaminidase A Alpha (HEXa) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Hexosaminidase A Alpha (HEXa) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Hexosaminidase A Alpha (HEXa) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Hexosaminidase A Alpha (HEXa) | CLIA assay for Antigen Detection |
Organism species: Ovis aries; Ovine (Sheep)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Hexosaminidase A Alpha (HEXa) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Hexosaminidase A Alpha (HEXa) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Hexosaminidase A Alpha (HEXa) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Hexosaminidase A Alpha (HEXa) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Hexosaminidase A Alpha (HEXa) | CLIA assay for Antigen Detection |
Organism species: Oryctolagus cuniculus (Rabbit)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Hexosaminidase A Alpha (HEXa) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Hexosaminidase A Alpha (HEXa) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Hexosaminidase A Alpha (HEXa) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Hexosaminidase A Alpha (HEXa) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Hexosaminidase A Alpha (HEXa) | CLIA assay for Antigen Detection |
Organism species: Cavia (Guinea pig )
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Hexosaminidase A Alpha (HEXa) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Hexosaminidase A Alpha (HEXa) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Hexosaminidase A Alpha (HEXa) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Hexosaminidase A Alpha (HEXa) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Hexosaminidase A Alpha (HEXa) | CLIA assay for Antigen Detection |
Organism species: Equus caballus; Equine (Horse)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Hexosaminidase A Alpha (HEXa) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Hexosaminidase A Alpha (HEXa) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Hexosaminidase A Alpha (HEXa) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Hexosaminidase A Alpha (HEXa) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Hexosaminidase A Alpha (HEXa) | CLIA assay for Antigen Detection |
Organism species: Capra hircus; Caprine (Goat)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Hexosaminidase A Alpha (HEXa) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Hexosaminidase A Alpha (HEXa) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Hexosaminidase A Alpha (HEXa) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Hexosaminidase A Alpha (HEXa) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Hexosaminidase A Alpha (HEXa) | CLIA assay for Antigen Detection |
Organism species: Pan-species (General)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | NONE | Recombinant Hexosaminidase A Alpha (HEXa) | Positive Control; Immunogen; SDS-PAGE; WB. |
| NONE | Native Hexosaminidase A Alpha (HEXa) | Bioactivity | |
| Antibodies | NONE | Monoclonal Antibody to Hexosaminidase A Alpha (HEXa) | WB; IHC; ICC; IP. |
| NONE | Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | WB; IHC; ICC; IF. | |
| NONE | Biotin Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | ELISA(Det);IC; IH; IH(P); WB | |
| NONE | APC Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | IHC, WB | |
| NONE | HRP Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Simple Western; WB | |
| NONE | PE Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Flow Cytometry | |
| NONE | FITC Linked-Polyclonal Antibody to Hexosaminidase A Alpha (HEXa) | Flow Cytometry;ICC/IF | |
| Assay Kits | NONE | ELISA Kit for Hexosaminidase A Alpha (HEXa) | Enzyme-linked immunosorbent assay for Antigen Detection |
| NONE | CLIA kit for Hexosaminidase A Alpha (HEXa) | CLIA assay for Antigen Detection |
Reference
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"Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene."
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"A new mutation in the HEXA gene associated with a spinal muscular atrophy phenotype."
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"Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene."
Neurology 47:547-552(1996) [PubMed] [Europe PMC] [Abstract]
"Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease."
Am. J. Hum. Genet. 60:1099-1106(1997) [PubMed] [Europe PMC] [Abstract]
"Tay-Sachs disease and HEXA mutations among Moroccan Jews."
Hum. Mutat. 10:295-300(1997) [PubMed] [Europe PMC] [Abstract]
"Two novel (1334delC and 1363G to A, G455R) mutations in exon 12 of the beta-hexosaminidase alpha-chain gene in two Portuguese patients."
Hum. Mutat. 10:359-360(1997) [PubMed] [Europe PMC] [Abstract]
"Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease."
Hum. Mutat. 10:451-457(1997) [PubMed] [Europe PMC] [Abstract]
"W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis."
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"Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form."
J. Hum. Genet. 48:571-574(2003) [PubMed] [Europe PMC] [Abstract]
"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]