Intronic ITGA3 Mutation Impacts Splicing Regulation and Causes Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa.
作者信息
He Yinghong, Balasubramanian Meena, Humphreys Nigel, Waruiru Catherine, Brauner Martin, Kohlhase Juergen, O'Reilly Ruth, Has Cristina
机构信息
Department of Dermatology, Medical Center-University of Freiburg, Freiburg, Germany.
Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
出版信息
J Invest Dermatol. 2016 May;136(5):1056-1059. doi: 10.1016/j.jid.2015.11.031. Epub 2016 Feb 15.
PMID:26854491
Abstract
摘要
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