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Pyloric atresia and epidermolysis bullosa

โœ Scribed by Peter Volsted Pedersen; Jens Hertel

Book ID
119456278
Publisher
Elsevier Science
Year
1977
Tongue
English
Weight
183 KB
Volume
91
Category
Article
ISSN
1097-6833

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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