Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with "tonotubular" keratin.
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.The most common mutation of KRT9, c.C487T (p.R163W), in epidermolytic palmoplantar keratoderma in two large Chinese pedigrees.A novel mutation of KRT9 gene in a Chinese Han pedigree with epidermolytic palmoplantar keratoderma.Mutation M157R of keratin 9 in a Chinese family with epidermolytic palmoplantar keratoderma.Disorders of Keratinization
P2860
Q28817702-6579BAAF-52DC-4361-B461-805F447903D8Q34154117-9C7550BF-2B8C-4BA4-8518-E1280F3F7177Q35125858-C13F3B06-8ED8-4866-9954-9816D2174B97Q40017098-ACD40BEA-EC56-4D1F-8551-E1C7F931CEE1Q51407682-207C7ED7-A92D-428E-B9A1-CDE9DFCCD608Q54533126-0BF82BBA-3A9D-434E-861D-638A8C8D21C8Q58859701-17951173-37A3-4437-8A5D-BF322B84B475
P2860
Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with "tonotubular" keratin.
description
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name
Mutation S233L in the 1B domai ...... ma with "tonotubular" keratin.
@en
Mutation S233L in the 1B domai ...... ma with "tonotubular" keratin.
@nl
type
label
Mutation S233L in the 1B domai ...... ma with "tonotubular" keratin.
@en
Mutation S233L in the 1B domai ...... ma with "tonotubular" keratin.
@nl
prefLabel
Mutation S233L in the 1B domai ...... ma with "tonotubular" keratin.
@en
Mutation S233L in the 1B domai ...... ma with "tonotubular" keratin.
@nl
P2093
P356
P1476
Mutation S233L in the 1B domai ...... rma with "tonotubular" keratin
@en
P2093
Ana Terron-Kwiatkowski
E Birgitte Lane
Michel van Geel
Peter M Steijlen
P2888
P304
P356
10.1038/SJ.JID.5700152
P407
P577
2006-03-01T00:00:00Z