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Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case

✍ Scribed by M Nagao-Watanabe; T Fukao; E Matsui; H Kaneko; R Inoue; N Kawamoto; K Kasahara; M Nagai; Y Ichiki; Y Kitajima; N Kondo

Book ID: 110887914
Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 1013 KB
Volume: 66
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.2004.00292.x

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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][