Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.
Science
; 280(5368): 1447-51, 1998 May 29.
Article
em En
| MEDLINE
| ID: mdl-9603736
DFNB3, a locus for nonsyndromic sensorineural recessive deafness, maps to a 3-centimorgan interval on human chromosome 17p11.2, a region that shows conserved synteny with mouse shaker-2. A human unconventional myosin gene, MYO15, was identified by combining functional and positional cloning approaches in searching for shaker-2 and DFNB3. MYO15 has at least 50 exons spanning 36 kilobases. Sequence analyses of these exons in affected individuals from three unrelated DFNB3 families revealed two missense mutations and one nonsense mutation that cosegregated with congenital recessive deafness.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Miosinas
/
Surdez
Tipo de estudo:
Risk_factors_studies
Limite:
Animals
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Science
Ano de publicação:
1998
Tipo de documento:
Article
País de afiliação:
Estados Unidos
País de publicação:
Estados Unidos