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Identification of p.A684V missense mutation in the WFS1 gen..:
Rendtorff, Nanna D.
;
Lodahl, Marianne
;
Boulahbel, Houda
...
American Journal of Medical Genetics Part A. 155 (2011) 6 - p. 1298-1313 , 2011
Link:
https://doi.org/10.1002/ajmg.a.33970
RT Journal T1 <Title>Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.33970&Exemplar=1&LAN=DE A1 Rendtorff, Nanna D. A1 Lodahl, Marianne A1 Boulahbel, Houda A1 Johansen, Ida R. A1 Pandya, Arti A1 Welch, Katherine O. A1 Norris, Virginia W. A1 Arnos, Kathleen S. A1 Bitner‐Glindzicz, Maria A1 Emery, Sarah B. A1 Mets, Marilyn B. A1 Fagerheim, Toril A1 Eriksson, Kristina A1 Hansen, Lars A1 Bruhn, Helene A1 Möller, Claes A1 Lindholm, Sture A1 Ensgaard, Stefan A1 Lesperance, Marci M. A1 Tranebjaerg, Lisbeth PB Wiley YR 2011 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 155 IS 6 SP 1298 OP 1313 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.33970 DO https://doi.org/10.1002/ajmg.a.33970 SF ELIB - SuUB Bremen
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