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
- Sanchez F
- Trujillo MJ
- Najera C
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. Hum Mutat 14:181, 1999. Copyright 1999 Wiley-Liss, Inc.
Datos de la publicación
- ISSN/ISSNe:
- 1059-7794, 1098-1004
- Tipo:
- Article
- Páginas:
- 181-181
- PubMed:
- 10425080
- Factor de Impacto:
- 1,261 SCImago ℠
- Cuartil:
- Q1 SCImago ℠
HUMAN MUTATION WILEY
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Filiaciones
Cita
Cuevas JM,ESPIN SC,MILLAN JM,Sanchez F,Trujillo MJ,AYUSO C,BENEYTO M,Najera C. Identification of three novel mutations in the MYO7A gene. Hum. Mutat. 1999. 14. (2):p. 181-181. IF:2,642. (2).