Plectin Gene Defects Lead to Various Forms of Epidermolysis Bullosa Simplex
✍ Scribed by Rezniczek, Günther A.; Walko, Gernot; Wiche, Gerhard
- Book ID
- 122237119
- Publisher
- Elsevier Science
- Year
- 2010
- Tongue
- English
- Weight
- 204 KB
- Volume
- 28
- Category
- Article
- ISSN
- 0733-8635
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📜 SIMILAR VOLUMES
Plectin is a cytoskeletal linker protein which has a long central rod and N- and C-terminal globular domains. Mutations in the gene encoding plectin (__PLEC__) cause two distinct autosomal recessive subtypes of epidermolysis bullosa: EB simplex (EBS) with muscular dystrophy (EBS-MD), and EBS with py
## 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][