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A keratin K5 mutation (Leu 463→Pro) in a family with the Weber-Cockayne type of epidermolysis bullosa simplex

✍ Scribed by K. Nomura; K. Umeki; X. Meng; K. Tamai; D. Sawamura; M. Hosokawa; T. Miyazawa; M. Funayama; I. Hashimoto


Book ID
106079297
Publisher
Springer-Verlag
Year
1997
Tongue
English
Weight
43 KB
Volume
289
Category
Article
ISSN
0340-3696

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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][