Portal de investigación
Novel mutations in the USH1C gene in Usher syndrome patients.
Autores de IIS La Fe
Participantes ajenos a IIS La Fe
- Graziano C
- Seri M
- Simsek T
- Simsek E
- Bernal S
- Baiget M
Grupos
Abstract
Usher syndrome type I (USH1) is an autosomal recessive disorder characterized by severe-profound sensorineural hearing loss, retinitis pigmentosa, and vestibular areflexia. To date, five USH1 genes have been identified. One of these genes is Usher syndrome 1C (USH1C), which encodes a protein, harmonin, containing PDZ domains. The aim of the present work was the mutation screening of the USH1C gene in a cohort of 33 Usher syndrome patients, to identify the genetic cause of the disease and to determine the relative involvement of this gene in USH1 pathogenesis in the Spanish population.
Datos de la publicación
- ISSN/ISSNe:
- 1090-0535, 1090-0535
- Tipo:
- Article
- Páginas:
- 2948-2954
- PubMed:
- 21203349
- Factor de Impacto:
- 1,134 SCImago ℠
- Cuartil:
- Q1 SCImago ℠
MOLECULAR VISION MOLECULAR VISION
Citas Recibidas en Web of Science: 4
Documentos
- No hay documentos
Métricas
Filiaciones
Cita
APARISI MJ,GARCÍA G,JAIJO T,RODRIGO R,Graziano C,Seri M,Simsek T,Simsek E,Bernal S,Baiget M,PÉREZ H,ALLER E,MILLÁN JM. Novel mutations in the USH1C gene in Usher syndrome patients. Mol Vis. 2010. 16. (313-19):p. 2948-2954. IF:2,000. (1).