Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1298, doi. 10.1002/ajmg.a.33970

By:

• Rendtorff, Nanna D.;
• Lodahl, Marianne;
• Boulahbel, Houda;
• Johansen, Ida R.;
• Pandya, Arti;
• Welch, Katherine O.;
• Norris, Virginia W.;
• Arnos, Kathleen S.;
• Bitner-Glindzicz, Maria;
• Emery, Sarah B.;
• Mets, Marilyn B.;
• Fagerheim, Toril;
• Eriksson, Kristina;
• Hansen, Lars;
• Bruhn, Helene;
• Möller, Claes;
• Lindholm, Sture;
• Ensgaard, Stefan;
• Lesperance, Marci M.;
• Tranebjaerg, Lisbeth

Publication type:

Article