Portal de investigación
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.
Autores de IIS La Fe
Participantes ajenos a IIS La Fe
- Ávila-Fernández A
- Cantalapiedra D
- Vallespín E
- Aguirre-Lambán J
- Blanco-Kelly F
- Corton M
- Riveiro-Álvarez R
- Allikmets R
- Trujillo-Tiebas MJ
- Cremers FP
Abstract
Retinitis pigmentosa (RP) is a genetically heterogeneous disorder characterized by progressive loss of vision. The aim of this study was to identify the causative mutations in 272 Spanish families using a genotyping microarray.
Datos de la publicación
- ISSN/ISSNe:
- 1090-0535, 1090-0535
- Tipo:
- Article
- Páginas:
- 2550-2558
- PubMed:
- 21151602
- Factor de Impacto:
- 1,134 SCImago ℠
- Cuartil:
- Q1 SCImago ℠
MOLECULAR VISION MOLECULAR VISION
Citas Recibidas en Web of Science: 95
Documentos
- No hay documentos
Métricas
Filiaciones
Cita
Ávila A,Cantalapiedra D,ALLER E,Vallespín E,Aguirre J,Blanco F,Corton M,Riveiro R,Allikmets R,Trujillo MJ,MILLÁN JM,Cremers FP,AYUSO C. Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray. Mol Vis. 2010. 16. (271-72):p. 2550-2558. IF:2,000. (1).