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A mutation (met→arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex

✍ Scribed by Marian M. Humphries; Denise M. Sheils; Gwyneth J. Farrar; Rajendra Kumar-Singh; Paul F. Kenna; Fiona C. Mansergh; Siobhan A. Jordan; Marjory Young; Peter Humphries

Publisher: John Wiley and Sons
Year: 1993
Tongue: English
Weight: 564 KB
Volume: 2
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380020107

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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][