Portal de investigación
Identification of three novel mutations in the MYO7A gene.
Fecha de publicación:
Autores de IIS La Fe
Participantes ajenos a IIS La Fe
- Cuevas JM
- Sánchez F
- Trujillo MJ
Abstract
Three new mutations in the myosin VIIA gene involved in the pathogenesis of Usher syndrome type Ib are reported. These mutations are K1080X in exon 25, E1170K in exon 28, and Y1719C in exon 37. It is presumed that these mutations are involved in the Usher syndrome Ib phenotype.
Datos de la publicación
- ISSN/ISSNe:
- 1059-7794, 1098-1004
- Tipo:
- Article
- Páginas:
- 181-181
- PubMed:
- 10447383
- Factor de Impacto:
- 1,261 SCImago ℠
- Cuartil:
- Q1 SCImago ℠
HUMAN MUTATION WILEY
Documentos
- No hay documentos
Filiaciones
Cita
Cuevas JM,ESPINÓS C,MILLÁN JM,Sánchez F,Trujillo MJ,AYUSO C,BENEYTO M,NÁJERA C. Identification of three novel mutations in the MYO7A gene. Hum. Mutat. 1999. 14. (2):p. 181-181. IF:2,642. (2).