Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families.
作者信息
Ahmad F, Shah K, Umair M, Jan A, Khan S, Muhammad D, Basit S, Wakil S M, Ramzan K, Ahmad W
机构信息
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology [KUST], Kohat, Khyber Pakhtunkhwa, Pakistan.
出版信息
Clin Exp Dermatol. 2018 Aug;43(6):752-755. doi: 10.1111/ced.13610. Epub 2018 May 23.
PMID:29797489
Abstract
摘要
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