Portal de investigación
Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib.
Autores de IIS La Fe
Participantes ajenos a IIS La Fe
- Cuevas JM
- Sánchez F
- Trujillo MJ
- García-Sandoval B
Abstract
A Spanish family with three Usher I syndrome-affected members was linked to markers located on chromosome 11q. A search for mutations on the myosin VIIA gene revealed a novel mutation (Cys628STOP) on exon 16 segregating with the disorder in a homozygous state. This nonsense mutation could be responsible for the disease since it leads to a truncated protein that presumably has no function.
Datos de la publicación
- ISSN/ISSNe:
- 0890-8508, 1096-1194
- Tipo:
- Article
- Páginas:
- 417-420
- PubMed:
- 9843659
MOL CELL PROBE Elsevier Inc.
Citas Recibidas en Web of Science: 10
Documentos
- No hay documentos
Filiaciones
Cita
Cuevas JM,ESPINÓS C,MILLÁN JM,Sánchez F,Trujillo MJ,García B,AYUSO C,NÁJERA C,BENEYTO M. Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib. Mol Cell Probes. 1998. 12. (6):p. 417-420.