Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene.
about
In silico predicted structural and functional insights of all missense mutations on 2B domain of K1/K10 causing genodermatoses.Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma.Keratin gene mutations in disorders of human skin and its appendages.Keratins and skin disorders.The most common mutation of KRT9, c.C487T (p.R163W), in epidermolytic palmoplantar keratoderma in two large Chinese pedigrees.A recurrent missense mutation of keratin 1 gene in a Chinese family with epidermolytic hyperkeratosis (severe palmoplantar hyperkeratosis, type 1).Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1.Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin.Mutation M157R of keratin 9 in a Chinese family with epidermolytic palmoplantar keratoderma.
P2860
Q28817702-88BA51D1-73B9-4A9B-9EC8-CAB2C2AA7262Q34154117-3E0F4B74-92C0-47CA-B9D4-B067DE0E9994Q35125858-A22293C3-6E43-4661-A876-B14B7A9E92AFQ35923500-F75AE3AF-6480-4514-8E77-72C6DD1A70C7Q40017098-4C88DFCA-E0DC-4D19-9EE0-E7CF307D57FFQ44480813-8032A4D3-299E-4863-916B-9EFC4C3D0D2CQ50580451-292E8D68-F6BE-43B8-BD20-007BC4EF2314Q52311060-E79EE5CF-5278-4D36-9101-40BCDF490638Q54533126-4272F717-222C-43DC-9E3D-DD33884C304B
P2860
Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene.
description
2004 nî lūn-bûn
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name
Atypical epidermolytic palmopl ...... utation in the keratin 1 gene.
@en
Atypical epidermolytic palmopl ...... utation in the keratin 1 gene.
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type
label
Atypical epidermolytic palmopl ...... utation in the keratin 1 gene.
@en
Atypical epidermolytic palmopl ...... utation in the keratin 1 gene.
@nl
prefLabel
Atypical epidermolytic palmopl ...... utation in the keratin 1 gene.
@en
Atypical epidermolytic palmopl ...... utation in the keratin 1 gene.
@nl
P2093
P2860
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P1476
Atypical epidermolytic palmopl ...... utation in the keratin 1 gene.
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P2093
Atherton DJ
Terron-Kwiatkowski A
P2860
P304
P356
10.1111/J.1365-2133.2004.05967.X
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P577
2004-06-01T00:00:00Z