Elastase 2, Neutrophil (ELA2)
ELANE; HLE; HNE; NE; PMN-E; Neutrophil Elastase; Medullasin; Polymorphonuclear Leukocyte Elastase; Bone Marrow Serine Protease; Human Leukocyte Elastase; PMN Elastase
Neutrophil elastase is a serine protease in the same family as chymotrypsin and has broad substrate specificity. Secreted by neutrophils during inflammation, it destroys bacteria and host tissue. As with other serine proteases it contains a charge relay system composed of the catalytic triad of histidine, aspartate, and serine residues that are dispersed throughout the primary sequence of the polypeptide but that are brought together in the three dimension conformation of the folded protein. The gene encoding neutrophil elastase, ELA2, consists of five exons. The neutrophil form of elastase is 218 amino acids long, with two asparagine-linked carbohydrate chains. It is present in azurophil granules in the neutrophil cytoplasm. There appear to be two forms of neutrophil elastase, termed IIa and IIb.
Organism species: Homo sapiens (Human)
PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
---|---|---|---|
Proteins | W547Hu01 | Recombinant Elastase 2, Neutrophil (ELA2) | Positive Control; Immunogen; SDS-PAGE; WB. |
NONE | Native Elastase 2, Neutrophil (ELA2) | Bioactivity | |
Antibodies | MW547Hu22 | Monoclonal Antibody to Elastase 2, Neutrophil (ELA2) | WB; IHC; ICC; IP. |
PW547Hu01 | Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | WB; IHC; ICC; IF. | |
NONE | Biotin Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | ELISA(Det);IC; IH; IH(P); WB | |
NONE | APC Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | IHC, WB | |
NONE | HRP Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Simple Western; WB | |
NONE | PE Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Flow Cytometry | |
NONE | FITC Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Flow Cytometry;ICC/IF | |
Assay Kits | KEW547Hu | ELISA Kit for Elastase 2, Neutrophil (ELA2) | Enzyme-linked immunosorbent assay for Antigen Detection |
NONE | CLIA kit for Elastase 2, Neutrophil (ELA2) | CLIA assay for Antigen Detection |
Organism species: Mus musculus (Mouse)
PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
---|---|---|---|
Proteins | W547Mu01 | Recombinant Elastase 2, Neutrophil (ELA2) | Positive Control; Immunogen; SDS-PAGE; WB. |
NONE | Native Elastase 2, Neutrophil (ELA2) | Bioactivity | |
Antibodies | NONE | Monoclonal Antibody to Elastase 2, Neutrophil (ELA2) | WB; IHC; ICC; IP. |
PW547Mu01 | Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | WB; IHC; ICC; IF. | |
NONE | Biotin Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | ELISA(Det);IC; IH; IH(P); WB | |
NONE | APC Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | IHC, WB | |
NONE | HRP Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Simple Western; WB | |
NONE | PE Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Flow Cytometry | |
NONE | FITC Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Flow Cytometry;ICC/IF | |
Assay Kits | KEW547Mu | ELISA Kit for Elastase 2, Neutrophil (ELA2) | Enzyme-linked immunosorbent assay for Antigen Detection |
NONE | CLIA kit for Elastase 2, Neutrophil (ELA2) | CLIA assay for Antigen Detection |
Organism species: Rattus norvegicus (Rat)
PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
---|---|---|---|
Proteins | W547Ra01 | Recombinant Elastase 2, Neutrophil (ELA2) | Positive Control; Immunogen; SDS-PAGE; WB. |
NONE | Native Elastase 2, Neutrophil (ELA2) | Bioactivity | |
Antibodies | MW547Ra21 | Monoclonal Antibody to Elastase 2, Neutrophil (ELA2) | WB; IHC; ICC; IP. |
PW547Ra01 | Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | WB; IHC; ICC; IF. | |
NONE | Biotin Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | ELISA(Det);IC; IH; IH(P); WB | |
NONE | APC Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | IHC, WB | |
NONE | HRP Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Simple Western; WB | |
NONE | PE Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Flow Cytometry | |
NONE | FITC Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Flow Cytometry;ICC/IF | |
Assay Kits | KEW547Ra | ELISA Kit for Elastase 2, Neutrophil (ELA2) | Enzyme-linked immunosorbent assay for Antigen Detection |
NONE | CLIA kit for Elastase 2, Neutrophil (ELA2) | CLIA assay for Antigen Detection |
Organism species: Canis familiaris; Canine (Dog)
PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
---|---|---|---|
Proteins | W547Ca01 | Recombinant Elastase 2, Neutrophil (ELA2) | Positive Control; Immunogen; SDS-PAGE; WB. |
NONE | Native Elastase 2, Neutrophil (ELA2) | Bioactivity | |
Antibodies | MW547Ca21 | Monoclonal Antibody to Elastase 2, Neutrophil (ELA2) | WB; IHC; ICC; IP. |
PW547Ca01 | Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | WB; IHC; ICC; IF. | |
NONE | Biotin Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | ELISA(Det);IC; IH; IH(P); WB | |
NONE | APC Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | IHC, WB | |
NONE | HRP Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Simple Western; WB | |
NONE | PE Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Flow Cytometry | |
NONE | FITC Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Flow Cytometry;ICC/IF | |
Assay Kits | KEW547Ca | ELISA Kit for Elastase 2, Neutrophil (ELA2) | Enzyme-linked immunosorbent assay for Antigen Detection |
NONE | CLIA kit for Elastase 2, Neutrophil (ELA2) | CLIA assay for Antigen Detection |
Organism species: Sus scrofa; Porcine (Pig)
PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
---|---|---|---|
Proteins | NONE | Recombinant Elastase 2, Neutrophil (ELA2) | Positive Control; Immunogen; SDS-PAGE; WB. |
NONE | Native Elastase 2, Neutrophil (ELA2) | Bioactivity | |
Antibodies | NONE | Monoclonal Antibody to Elastase 2, Neutrophil (ELA2) | WB; IHC; ICC; IP. |
NONE | Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | WB; IHC; ICC; IF. | |
NONE | Biotin Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | ELISA(Det);IC; IH; IH(P); WB | |
NONE | APC Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | IHC, WB | |
NONE | HRP Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Simple Western; WB | |
NONE | PE Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Flow Cytometry | |
NONE | FITC Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Flow Cytometry;ICC/IF | |
Assay Kits | NONE | ELISA Kit for Elastase 2, Neutrophil (ELA2) | Enzyme-linked immunosorbent assay for Antigen Detection |
NONE | CLIA kit for Elastase 2, Neutrophil (ELA2) | CLIA assay for Antigen Detection |
Organism species: Bos taurus; Bovine (Cattle)
PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
---|---|---|---|
Proteins | NONE | Recombinant Elastase 2, Neutrophil (ELA2) | Positive Control; Immunogen; SDS-PAGE; WB. |
NONE | Native Elastase 2, Neutrophil (ELA2) | Bioactivity | |
Antibodies | NONE | Monoclonal Antibody to Elastase 2, Neutrophil (ELA2) | WB; IHC; ICC; IP. |
NONE | Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | WB; IHC; ICC; IF. | |
NONE | Biotin Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | ELISA(Det);IC; IH; IH(P); WB | |
NONE | APC Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | IHC, WB | |
NONE | HRP Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Simple Western; WB | |
NONE | PE Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Flow Cytometry | |
NONE | FITC Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Flow Cytometry;ICC/IF | |
Assay Kits | NONE | ELISA Kit for Elastase 2, Neutrophil (ELA2) | Enzyme-linked immunosorbent assay for Antigen Detection |
NONE | CLIA kit for Elastase 2, Neutrophil (ELA2) | CLIA assay for Antigen Detection |
Organism species: Rhesus monkey (Simian)
PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
---|---|---|---|
Proteins | NONE | Recombinant Elastase 2, Neutrophil (ELA2) | Positive Control; Immunogen; SDS-PAGE; WB. |
NONE | Native Elastase 2, Neutrophil (ELA2) | Bioactivity | |
Antibodies | NONE | Monoclonal Antibody to Elastase 2, Neutrophil (ELA2) | WB; IHC; ICC; IP. |
NONE | Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | WB; IHC; ICC; IF. | |
NONE | Biotin Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | ELISA(Det);IC; IH; IH(P); WB | |
NONE | APC Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | IHC, WB | |
NONE | HRP Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Simple Western; WB | |
NONE | PE Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Flow Cytometry | |
NONE | FITC Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Flow Cytometry;ICC/IF | |
Assay Kits | NONE | ELISA Kit for Elastase 2, Neutrophil (ELA2) | Enzyme-linked immunosorbent assay for Antigen Detection |
NONE | CLIA kit for Elastase 2, Neutrophil (ELA2) | CLIA assay for Antigen Detection |
Organism species: Chicken (Gallus)
PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
---|---|---|---|
Proteins | NONE | Recombinant Elastase 2, Neutrophil (ELA2) | Positive Control; Immunogen; SDS-PAGE; WB. |
NONE | Native Elastase 2, Neutrophil (ELA2) | Bioactivity | |
Antibodies | NONE | Monoclonal Antibody to Elastase 2, Neutrophil (ELA2) | WB; IHC; ICC; IP. |
NONE | Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | WB; IHC; ICC; IF. | |
NONE | Biotin Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | ELISA(Det);IC; IH; IH(P); WB | |
NONE | APC Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | IHC, WB | |
NONE | HRP Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Simple Western; WB | |
NONE | PE Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Flow Cytometry | |
NONE | FITC Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Flow Cytometry;ICC/IF | |
Assay Kits | NONE | ELISA Kit for Elastase 2, Neutrophil (ELA2) | Enzyme-linked immunosorbent assay for Antigen Detection |
NONE | CLIA kit for Elastase 2, Neutrophil (ELA2) | CLIA assay for Antigen Detection |
Organism species: Ovis aries; Ovine (Sheep)
PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
---|---|---|---|
Proteins | NONE | Recombinant Elastase 2, Neutrophil (ELA2) | Positive Control; Immunogen; SDS-PAGE; WB. |
NONE | Native Elastase 2, Neutrophil (ELA2) | Bioactivity | |
Antibodies | NONE | Monoclonal Antibody to Elastase 2, Neutrophil (ELA2) | WB; IHC; ICC; IP. |
NONE | Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | WB; IHC; ICC; IF. | |
NONE | Biotin Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | ELISA(Det);IC; IH; IH(P); WB | |
NONE | APC Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | IHC, WB | |
NONE | HRP Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Simple Western; WB | |
NONE | PE Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Flow Cytometry | |
NONE | FITC Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Flow Cytometry;ICC/IF | |
Assay Kits | NONE | ELISA Kit for Elastase 2, Neutrophil (ELA2) | Enzyme-linked immunosorbent assay for Antigen Detection |
NONE | CLIA kit for Elastase 2, Neutrophil (ELA2) | CLIA assay for Antigen Detection |
Organism species: Oryctolagus cuniculus (Rabbit)
PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
---|---|---|---|
Proteins | NONE | Recombinant Elastase 2, Neutrophil (ELA2) | Positive Control; Immunogen; SDS-PAGE; WB. |
NONE | Native Elastase 2, Neutrophil (ELA2) | Bioactivity | |
Antibodies | NONE | Monoclonal Antibody to Elastase 2, Neutrophil (ELA2) | WB; IHC; ICC; IP. |
NONE | Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | WB; IHC; ICC; IF. | |
NONE | Biotin Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | ELISA(Det);IC; IH; IH(P); WB | |
NONE | APC Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | IHC, WB | |
NONE | HRP Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Simple Western; WB | |
NONE | PE Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Flow Cytometry | |
NONE | FITC Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Flow Cytometry;ICC/IF | |
Assay Kits | NONE | ELISA Kit for Elastase 2, Neutrophil (ELA2) | Enzyme-linked immunosorbent assay for Antigen Detection |
NONE | CLIA kit for Elastase 2, Neutrophil (ELA2) | CLIA assay for Antigen Detection |
Organism species: Cavia (Guinea pig )
PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
---|---|---|---|
Proteins | NONE | Recombinant Elastase 2, Neutrophil (ELA2) | Positive Control; Immunogen; SDS-PAGE; WB. |
NONE | Native Elastase 2, Neutrophil (ELA2) | Bioactivity | |
Antibodies | NONE | Monoclonal Antibody to Elastase 2, Neutrophil (ELA2) | WB; IHC; ICC; IP. |
NONE | Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | WB; IHC; ICC; IF. | |
NONE | Biotin Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | ELISA(Det);IC; IH; IH(P); WB | |
NONE | APC Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | IHC, WB | |
NONE | HRP Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Simple Western; WB | |
NONE | PE Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Flow Cytometry | |
NONE | FITC Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Flow Cytometry;ICC/IF | |
Assay Kits | NONE | ELISA Kit for Elastase 2, Neutrophil (ELA2) | Enzyme-linked immunosorbent assay for Antigen Detection |
NONE | CLIA kit for Elastase 2, Neutrophil (ELA2) | CLIA assay for Antigen Detection |
Organism species: Equus caballus; Equine (Horse)
PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
---|---|---|---|
Proteins | NONE | Recombinant Elastase 2, Neutrophil (ELA2) | Positive Control; Immunogen; SDS-PAGE; WB. |
NONE | Native Elastase 2, Neutrophil (ELA2) | Bioactivity | |
Antibodies | NONE | Monoclonal Antibody to Elastase 2, Neutrophil (ELA2) | WB; IHC; ICC; IP. |
NONE | Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | WB; IHC; ICC; IF. | |
NONE | Biotin Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | ELISA(Det);IC; IH; IH(P); WB | |
NONE | APC Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | IHC, WB | |
NONE | HRP Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Simple Western; WB | |
NONE | PE Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Flow Cytometry | |
NONE | FITC Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Flow Cytometry;ICC/IF | |
Assay Kits | NONE | ELISA Kit for Elastase 2, Neutrophil (ELA2) | Enzyme-linked immunosorbent assay for Antigen Detection |
NONE | CLIA kit for Elastase 2, Neutrophil (ELA2) | CLIA assay for Antigen Detection |
Organism species: Capra hircus; Caprine (Goat)
PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
---|---|---|---|
Proteins | NONE | Recombinant Elastase 2, Neutrophil (ELA2) | Positive Control; Immunogen; SDS-PAGE; WB. |
NONE | Native Elastase 2, Neutrophil (ELA2) | Bioactivity | |
Antibodies | NONE | Monoclonal Antibody to Elastase 2, Neutrophil (ELA2) | WB; IHC; ICC; IP. |
NONE | Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | WB; IHC; ICC; IF. | |
NONE | Biotin Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | ELISA(Det);IC; IH; IH(P); WB | |
NONE | APC Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | IHC, WB | |
NONE | HRP Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Simple Western; WB | |
NONE | PE Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Flow Cytometry | |
NONE | FITC Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Flow Cytometry;ICC/IF | |
Assay Kits | NONE | ELISA Kit for Elastase 2, Neutrophil (ELA2) | Enzyme-linked immunosorbent assay for Antigen Detection |
NONE | CLIA kit for Elastase 2, Neutrophil (ELA2) | CLIA assay for Antigen Detection |
Organism species: Pan-species (General)
PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
---|---|---|---|
Proteins | NONE | Recombinant Elastase 2, Neutrophil (ELA2) | Positive Control; Immunogen; SDS-PAGE; WB. |
NONE | Native Elastase 2, Neutrophil (ELA2) | Bioactivity | |
Antibodies | NONE | Monoclonal Antibody to Elastase 2, Neutrophil (ELA2) | WB; IHC; ICC; IP. |
NONE | Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | WB; IHC; ICC; IF. | |
NONE | Biotin Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | ELISA(Det);IC; IH; IH(P); WB | |
NONE | APC Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | IHC, WB | |
NONE | HRP Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Simple Western; WB | |
NONE | PE Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Flow Cytometry | |
NONE | FITC Linked-Polyclonal Antibody to Elastase 2, Neutrophil (ELA2) | Flow Cytometry;ICC/IF | |
Assay Kits | NONE | ELISA Kit for Elastase 2, Neutrophil (ELA2) | Enzyme-linked immunosorbent assay for Antigen Detection |
NONE | CLIA kit for Elastase 2, Neutrophil (ELA2) | CLIA assay for Antigen Detection |
Reference
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"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
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Proc. Natl. Acad. Sci. U.S.A. 86:7-11(1989) [PubMed] [Europe PMC] [Abstract]
"The refined 2.3-A crystal structure of human leukocyte elastase in a complex with a valine chloromethyl ketone inhibitor."
FEBS Lett. 234:367-373(1988) [PubMed] [Europe PMC] [Abstract]
"X-ray crystal structure of the complex of human leukocyte elastase (PMN elastase) and the third domain of the turkey ovomucoid inhibitor."
EMBO J. 5:2453-2458(1986) [PubMed] [Europe PMC] [Abstract]
"Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis."
Nat. Genet. 23:433-436(1999) [PubMed] [Europe PMC] [Abstract]
"Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia."
Blood 96:2317-2322(2000) [PubMed] [Europe PMC] [Abstract]
"Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease."
Blood 98:2645-2650(2001) [PubMed] [Europe PMC] [Abstract]
"Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia."
Blood 100:707-709(2002) [PubMed] [Europe PMC] [Abstract]
"Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register."
Blood 103:4119-4125(2004) [PubMed] [Europe PMC] [Abstract]
"Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia."
Hum. Mutat. 28:874-881(2007) [PubMed] [Europe PMC] [Abstract]
"A novel mutation Ala57Val of the ELA2 gene in a Korean boy with severe congenital neutropenia."
Ann. Hematol. 88:593-595(2009) [PubMed] [Europe PMC] [Abstract]
"Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds."
Br. J. Haematol. 144:762-770(2009) [PubMed] [Europe PMC] [Abstract]
"Ela2 mutations and clinical manifestations in familial congenital neutropenia."
J. Pediatr. Hematol. Oncol. 31:319-324(2009) [PubMed] [Europe PMC] [Abstract]
"Digenic mutations in severe congenital neutropenia."
Haematologica 95:1207-1210(2010) [PubMed] [Europe PMC] [Abstract]
"Pegfilgrastim in children with severe congenital neutropenia."
Pediatr. Blood Cancer 54:465-467(2010) [PubMed] [Europe PMC] [Abstract]
"Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation."
Ann. Hematol. 90:151-158(2011) [PubMed] [Europe PMC] [Abstract]
"Four novel ELANE mutations in patients with congenital neutropenia."
Pediatr. Blood Cancer 57:332-335(2011) [PubMed] [Europe PMC] [Abstract]
"The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia."
Hum. Mutat. 34:905-914(2013) [PubMed] [Europe PMC] [Abstract]