MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.
Am J Hum Genet
; 69(3): 635-40, 2001 Sep.
Article
en En
| MEDLINE
| ID: mdl-11468689
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Cromosomas Humanos Par 6
/
Cadenas Pesadas de Miosina
/
Sordera
Límite:
Animals
/
Humans
Idioma:
En
Revista:
Am J Hum Genet
Año:
2001
Tipo del documento:
Article
País de afiliación:
Italia
Pais de publicación:
Estados Unidos