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Epidermolysis bullosa and pyloric atresia

โœ Scribed by C Gire; C Nicaise; P Minodier; G Meneguzzi; C Prost; F Soula

Book ID
114812219
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
90 KB
Volume
88
Category
Article
ISSN
0803-5253

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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