×
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
Epidermolysis Bullosa Simplex Kobner
0.750
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
×
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
Epidermolysis Bullosa Simplex Kobner
0.750
GeneticVariation
UNIPROT
Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes.
11710919 2001
×
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
Epidermolysis Bullosa Simplex Kobner
0.750
GeneticVariation
UNIPROT
Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot mutation analysis.
10733662 2000
×
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
Epidermolysis Bullosa Simplex Kobner
0.750
GeneticVariation
UNIPROT
DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex.
10820403 2000
×
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
Epidermolysis Bullosa Simplex Kobner
0.750
GeneticVariation
UNIPROT
Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.
9989794 1999
×
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
Epidermolysis Bullosa Simplex Kobner
0.750
GeneticVariation
UNIPROT
A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex.
7526926 1994
×
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
Epidermolysis Bullosa Simplex Kobner
0.750
GeneticVariation
UNIPROT
A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.
7682883 1993
×
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
Epidermolysis Bullosa Simplex Kobner
0.750
GeneticVariation
UNIPROT
Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities.
1720261 1991
×
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
Epidermolysis Bullosa Simplex Kobner
0.730
GeneticVariation
UNIPROT
Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.
21623745 2011
×
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
Epidermolysis Bullosa Simplex Kobner
0.730
GeneticVariation
UNIPROT
Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.
16882168 2006
×
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
Epidermolysis Bullosa Simplex Kobner
0.730
GeneticVariation
UNIPROT
A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes.
11407988 2001
×
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
Epidermolysis Bullosa Simplex Kobner
0.730
GeneticVariation
UNIPROT
Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.
9989794 1999
×
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
Epidermolysis Bullosa Simplex Kobner
0.730
GeneticVariation
UNIPROT
A novel mutation in the L12 domain of keratin 5 in the Köbner variant of epidermolysis bullosa simplex.
9740251 1998
×
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
Epidermolysis Bullosa Simplex Kobner
0.730
GeneticVariation
UNIPROT
Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function.
7534039 1995
×
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
Epidermolysis Bullosa Simplex Kobner
0.730
GeneticVariation
UNIPROT
Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex.
7686424 1993