rs201729066
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
Neutropenia, Severe Congenital, Autosomal Dominant 1
0.700
GeneticVariation
UNIPROT
Digenic mutations in severe congenital neutropenia.
20220065
2010
rs201729066
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
Neutropenia, Severe Congenital, Autosomal Dominant 1
0.700
GeneticVariation
UNIPROT
Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia.
12091371
2002
rs201729066
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
Neutropenia, Severe Congenital, Autosomal Dominant 1
0.700
GeneticVariation
UNIPROT
Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation.
20803142
2011
rs201729066
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
Neutropenia, Severe Congenital, Autosomal Dominant 1
0.700
GeneticVariation
UNIPROT
Four novel ELANE mutations in patients with congenital neutropenia.
21425445
2011
rs201729066
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
Neutropenia, Severe Congenital, Autosomal Dominant 1
0.700
GeneticVariation
UNIPROT
The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.
23463630
2013
rs201729066
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
Neutropenia, Severe Congenital, Autosomal Dominant 1
0.700
GeneticVariation
UNIPROT
Pegfilgrastim in children with severe congenital neutropenia.
19927291
2010
rs201729066
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
Neutropenia, Severe Congenital, Autosomal Dominant 1
0.700
GeneticVariation
UNIPROT
Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds.
19036076
2009
rs201729066
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
Neutropenia, Severe Congenital, Autosomal Dominant 1
0.700
GeneticVariation
UNIPROT
Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia.
11001877
2000
rs201729066
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
Neutropenia, Severe Congenital, Autosomal Dominant 1
0.700
GeneticVariation
UNIPROT
Ela2 mutations and clinical manifestations in familial congenital neutropenia.
19415009
2009
rs201729066
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
Neutropenia, Severe Congenital, Autosomal Dominant 1
0.700
GeneticVariation
UNIPROT
Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.
14962902
2004
rs201729066
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
Neutropenia, Severe Congenital, Autosomal Dominant 1
0.700
GeneticVariation
UNIPROT
Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia.
17436313
2007
rs201729066
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
Neutropenia, Severe Congenital, Autosomal Dominant 1
0.700
GeneticVariation
UNIPROT
A novel mutation Ala57Val of the ELA2 gene in a Korean boy with severe congenital neutropenia.
18946670
2009
rs201729066
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
Neutropenia, Severe Congenital, Autosomal Dominant 1
0.700
GeneticVariation
UNIPROT
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.
11675333
2001