rs59864957
×
Entrez Id:
3852
Gene Symbol:
KRT5
KRT5
Weber-Cockayne Syndrome
0.700
GeneticVariation
UNIPROT
Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.
21623745
2011
rs59864957
×
Entrez Id:
3852
Gene Symbol:
KRT5
KRT5
Weber-Cockayne Syndrome
0.700
GeneticVariation
UNIPROT
Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.
16882168
2006
rs59864957
×
Entrez Id:
3852
Gene Symbol:
KRT5
KRT5
Weber-Cockayne Syndrome
0.700
GeneticVariation
UNIPROT
Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.
16786515
2006
rs59864957
×
Entrez Id:
3852
Gene Symbol:
KRT5
KRT5
Weber-Cockayne Syndrome
0.700
GeneticVariation
UNIPROT
A new keratin 5 mutation (K199T) in a family with Weber-Cockayne epidermolysis bullosa simplex.
14723728
2004
rs59864957
×
Entrez Id:
3852
Gene Symbol:
KRT5
KRT5
Weber-Cockayne Syndrome
0.700
GeneticVariation
UNIPROT
A new mutation in the linker 12 domain of keratin 5 in a Chinese family with Weber-Cockayne epidermolysis bullosa simplex.
15347343
2004
rs59864957
×
Entrez Id:
3852
Gene Symbol:
KRT5
KRT5
Weber-Cockayne Syndrome
0.700
GeneticVariation
UNIPROT
A mutation (N177S) in the structurally conserved helix initiation peptide motif of keratin 5 causes a mild EBS phenotype.
15140024
2004
rs59864957
×
Entrez Id:
3852
Gene Symbol:
KRT5
KRT5
Weber-Cockayne Syndrome
0.700
GeneticVariation
UNIPROT
Epidermolysis bullosa simplex in Israel: clinical and genetic features.
12707098
2003
rs59864957
×
Entrez Id:
3852
Gene Symbol:
KRT5
KRT5
Weber-Cockayne Syndrome
0.700
GeneticVariation
UNIPROT
Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations.
12655565
2003
rs59864957
×
Entrez Id:
3852
Gene Symbol:
KRT5
KRT5
Weber-Cockayne Syndrome
0.700
GeneticVariation
UNIPROT
K5 D328E: a novel missense mutation in the linker 12 domain of keratin 5 associated with epidermolysis bullosa simplex (Weber-Cockayne).
10782015
2000
rs59864957
×
Entrez Id:
3852
Gene Symbol:
KRT5
KRT5
Weber-Cockayne Syndrome
0.700
GeneticVariation
UNIPROT
Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex.
9804357
1998
rs59864957
×
Entrez Id:
3852
Gene Symbol:
KRT5
KRT5
Weber-Cockayne Syndrome
0.700
GeneticVariation
UNIPROT
Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland.
8807337
1996
rs59864957
×
Entrez Id:
3852
Gene Symbol:
KRT5
KRT5
Weber-Cockayne Syndrome
0.700
GeneticVariation
UNIPROT
Epidermolysis bullosa simplex (Weber-Cockayne) associated with a novel missense mutation of Asp328 to Val in Linker 12 domain of keratin 5.
8595431
1995
rs59864957
×
Entrez Id:
3852
Gene Symbol:
KRT5
KRT5
Weber-Cockayne Syndrome
0.700
GeneticVariation
UNIPROT
Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex.
7520042
1994
rs59864957
×
Entrez Id:
3852
Gene Symbol:
KRT5
KRT5
Weber-Cockayne Syndrome
0.700
GeneticVariation
UNIPROT
Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function.
7506097
1993
rs59864957
×
Entrez Id:
3852
Gene Symbol:
KRT5
KRT5
Weber-Cockayne Syndrome
0.700
GeneticVariation
UNIPROT
The genetic basis of Weber-Cockayne epidermolysis bullosa simplex.
7688477
1993