rs58062863
|
|
Hyperkeratosis, Epidermolytic
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis.
|
1381288 |
1992 |
rs58062863
|
|
Hyperkeratosis, Epidermolytic
|
|
0.700 |
GeneticVariation
|
UNIPROT |
An asparagine to threonine substitution in the 1A domain of keratin 1: a novel mutation that causes epidermolytic hyperkeratosis.
|
10232403 |
1999 |
rs58062863
|
|
Hyperkeratosis, Epidermolytic
|
|
0.700 |
GeneticVariation
|
UNIPROT |
An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1.
|
9856846 |
1998 |
rs58062863
|
|
Hyperkeratosis, Epidermolytic
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Epidermolytic hyperkeratosis in a Hispanic family resulting from a mutation in the keratin 1 gene.
|
10844506 |
2000 |
rs58062863
|
|
Hyperkeratosis, Epidermolytic
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis.
|
21271994 |
2011 |
rs58062863
|
|
Hyperkeratosis, Epidermolytic
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity.
|
7512983 |
1994 |
rs58062863
|
|
Hyperkeratosis, Epidermolytic
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis.
|
10688370 |
2000 |
rs58062863
|
|
Hyperkeratosis, Epidermolytic
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis.
|
7507151 |
1994 |
rs58062863
|
|
Hyperkeratosis, Epidermolytic
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).
|
7507152 |
1994 |
rs58062863
|
|
Hyperkeratosis, Epidermolytic
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis.
|
1380725 |
1992 |
rs58062863
|
|
Hyperkeratosis, Epidermolytic
|
|
0.700 |
GeneticVariation
|
UNIPROT |
New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens.
|
11531804 |
2001 |
rs58062863
|
|
Hyperkeratosis, Epidermolytic
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Two novel mutations in the keratin 1 gene in epidermolytic hyperkeratosis.
|
12406348 |
2002 |