Gene dosage effect of p.Glu170Lys mutation in the KRT5 gene in a Polish family with epidermolysis bullosa simplex
✍ Scribed by Ołdak, Monika; Szczecińska, Weronika; Przybylska, Dorota; Maksym, Radosław B.; Podgórska, Marta; Woźniak, Katarzyna; Płoski, Rafał; Kowalewski, Cezary
- Book ID
- 119293685
- Publisher
- Elsevier Science
- Year
- 2011
- Tongue
- English
- Weight
- 499 KB
- Volume
- 61
- Category
- Article
- ISSN
- 0923-1811
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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][
Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a rare dermatologic disorder of autosomal dominant inheritance with intraepidermal blistering after minor trauma, reticular hyperpigmentation unrelated to the blistering, nail dystrophy, and mild palmoplantar keratosis. Keratin 5 an