American journal of human genetics, 2001-09, Vol.69 (3), p.635-640
2001
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- Autor(en) / Beteiligte
- Titel
- MYO6, the Human Homologue of the Gene Responsible for Deafness in Snell’s Waltzer Mice, Is Mutated in Autosomal Dominant Nonsyndromic Hearing Loss
- Ist Teil von
- American journal of human genetics, 2001-09, Vol.69 (3), p.635-640
- Ort / Verlag
- Chicago, IL: Elsevier Inc
- Erscheinungsjahr
- 2001
- Quelle
- Free E-Journal (出版社公開部分のみ）
- Beschreibungen/Notizen
- 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.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0002-9297eISSN: 1537-6605DOI: 10.1086/323156Titel-ID: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1235492
- Format
- –
- Schlagworte
- Amino Acid Sequence, Animals, Biological and medical sciences, chromosome 6, Chromosome Mapping, Chromosomes, Human, Pair 6, Deafness - genetics, DFNA22 gene, Disease Models, Animal, Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology, Humans, Medical sciences, Mice, Models, Molecular, Molecular Sequence Data, Mutation, MYO6 gene, Myosin Heavy Chains - chemistry, Myosin Heavy Chains - genetics, Non tumoral diseases, Otorhinolaryngology. Stomatology, Pedigree, Protein Conformation, Sequence Homology, Amino Acid