Plectin Deficiency Leads to Both Muscular Dystrophy and Pyloric Atresia in Epidermolysis Bullosa Simplex

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 pylori...

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Autors principals: Natsuga, Ken, Nishie, Wataru, Shinkuma, Satoru, Arita, Ken, Nakamura, Hideki, Ohyama, Makiko, Osaka, Hitoshi, Kambara, Takeshi, Hirako, Yoshiaki, Shimizu, Hiroshi
Format: Artigo
Idioma:Inglês
Publicat: Wiley Subscription Services, Inc., A Wiley Company 2010
Matèries:
Mutation in Brief
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3023027/
https://ncbi.nlm.nih.gov/pubmed/20665883
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21330
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