The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex.

作者信息

Sathishkumar Dharshini, Orrin Elizabeth, Terron-Kwiatkowski Ana, Browne Fiona, Martinez Anna E, Mellerio Jemima E, Ogboli Malobi, Hoey Susannah, Ozoemena Linda, Liu Lu, Baty David, McGrath John A, Moss Celia

机构信息

Department of Dermatology, Birmingham Children's Hospital NHS FT, Birmingham, UK.

Department of Dermatology, Great Ormond Street Hospital for Children NHS FT, London, UK; St John's Institute of Dermatology, Guys and St Thomas' NHS FT, London, UK.

出版信息

J Invest Dermatol. 2016 Mar;136(3):719-721. doi: 10.1016/j.jid.2015.11.024. Epub 2015 Dec 30.

DOI:10.1016/j.jid.2015.11.024

PMID:26743602

Abstract

摘要

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