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Pyloric Atresia and Epidermolysis Bullosa

โœ Scribed by Andrew N. Lin

Book ID
109088732
Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
196 KB
Volume
14
Category
Article
ISSN
0736-8046

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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