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Novel mutation (Asp158Val) in H1 domain of keratin 5 gene in a Japanese patient with Köbner-type epidermolysis bullosa simplex

✍ Scribed by Hidehisa SAEKI; Kensuke NAKAMURA; Yuichiro TSUNEMI; Mayumi KOMINE; Kunihiko TAMAKI


Book ID
108576143
Publisher
John Wiley and Sons
Year
2006
Tongue
French
Weight
109 KB
Volume
33
Category
Article
ISSN
0385-2407

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## Communicated by Darwin J. Prockop We have previously reported linkage of a large Finnish family with the generalized (Kobner) type of epidermolysis bullosa simplex to chromosome 12q in the region containing the type I1 keratin gene cluster (Ryynanen et al., Am J Human Genet 49: [978][979][980][