Identification of p.A684V missense mutation in the WFS1...

American Journal of Medical Genetics Part A 2011 Vol. 155; Iss. 6

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

Nanna D. Rendtorff, Marianne Lodahl, Houda Boulahbel, Ida R. Johansen, Arti Pandya, Katherine O. Welch, Virginia W. Norris, Kathleen S. Arnos, Maria Bitner-Glindzicz, Sarah B. Emery, Marilyn B. Mets,
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Volume:
155
Year:
2011
Language:
english
Pages:
16
DOI:
10.1002/ajmg.a.33970
File:
PDF, 1.12 MB
english, 2011
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