期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 69, 期 3, 页码 635-640出版社
CELL PRESS
DOI: 10.1086/323156
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资金
- FIC NIH HHS [1 R03 TW01108-01] Funding Source: Medline
- Telethon [TGM06S01] Funding Source: Medline
Mutations in the unconventional myosin VI gene, Myo6, are associated with deafness and vestibular dysfunction in the Snell's waltzer (sv) mouse. The corresponding human gene, MYO6, is located on chromosome 6q13. We describe the mapping of a new deafness locus, DFNA22, on chromosome 6q13 in a family affected by a nonsyndromic dominant form of deafness (NSAD), and the subsequent identification of a missense mutation in the MYO6 gene in all members of the family with hearing loss.
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