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Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment
Document Type
Artikel
Author
Rendtorff, ND; Lodahl, M; Boulahbel, H; Johansen, IR; Pandya, A; Welch, KO; Norris, VW; Arnos, KS; Bitner-Glindzicz, M; Emery, SB; Mets, MB; Fagerheim, T; Eriksson, K; Hansen, L; Bruhn, H; Moller, C; Lindholm, S; Ensgaard, S; Lesperance, MM; Tranebjaerg, L
Source
American journal of medical genetics. Part A. 155A(6):1298-1313
Subject
Medicin och hälsovetenskap
Language
English
English
ISSN
1552-4833

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