Epidermolysis Bullosa Simplex Associated with Pyloric Atresia Is a Novel Clinical Subtype Caused by Mutations in the Plectin Gene (PLEC1)

Epidermolysis bullosa (EB) is an inherited mechano-bullous disorder of the skin, and is divided into three major categories: EB simplex (EBS), dystrophic EB, and junctional EB (JEB). Mutations in the plectin gene (PLEC1) cause EBS associated with muscular dystrophy, whereas JEB associated with pylor...

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Main Authors: Nakamura, Hiroyuki, Sawamura, Daisuke, Goto, Maki, Nakamura, Hideki, McMillan, James R., Park, Susam, Kono, Sumio, Hasegawa, Shiro, Paku, Son’e, Nakamura, Tomohiko, Ogiso, Yoshihumi, Shimizu, Hiroshi
格式: Artigo
語言:Inglês
出版: American Society for Investigative Pathology 2005
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC1867514/
https://ncbi.nlm.nih.gov/pubmed/15681471
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