Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment
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
Published in American journal of medical genetics. Part A (01.06.2011)
Published in American journal of medical genetics. Part A (01.06.2011)
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