Portal de investigación
Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.
Fecha de publicación:
Autores de IIS La Fe
Participantes ajenos a IIS La Fe
- Leon AM
- Avila-Fernandez A
- Blanco-Kelly F
- Bernal S
- Diaz-Llopis M
- Baiget M
Grupos
Abstract
Usher Syndrome type II (USH2) is an autosomal recessive disorder, characterized by moderate to severe hearing impairment and retinitis pigmentosa (RP). Among the three genes implicated, mutations in the USH2A gene account for 74-90% of the USH2 cases.
Datos de la publicación
- ISSN/ISSNe:
- 1750-1172, 1750-1172
- Tipo:
- Article
- Páginas:
- 65-65
- PubMed:
- 22004887
- Factor de Impacto:
- 2,181 SCImago ℠
- Cuartil:
- Q1 SCImago ℠
ORPHANET JOURNAL OF RARE DISEASES BIOMED CENTRAL LTD
Citas Recibidas en Web of Science: 47
Documentos
- No hay documentos
Filiaciones
Cita
GARCIA G,APARISI MJ,JAIJO T,RODRIGO R,Leon AM,Avila A,Blanco F,Bernal S,NAVARRO R,Diaz M,Baiget M,AYUSO C,MILLAN JM,ALLER E. Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations. Orphanet J Rare Dis. 2011. 6. p. 65-65. IF:5,074. (1).