High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population

BACKGROUND: CRB1 mutations are reported as cause of severe congenital and early-onset retinal dystrophies (EORD) with different phenotypic manifestations, including Leber congenital amaurosis (LCA), retinitis pigmentosa (RP) and cone-rod dystrophies. Comprehensive mutational scanning of the whole ge...

Descripción completa

Detalles Bibliográficos
Autores principales: Corton, Marta, Tatu, Sorina D, Avila-Fernandez, Almudena, Vallespín, Elena, Tapias, Ignacio, Cantalapiedra, Diego, Blanco-Kelly, Fiona, Riveiro-Alvarez, Rosa, Bernal, Sara, García-Sandoval, Blanca, Baiget, Montserrat, Ayuso, Carmen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3637806/
https://www.ncbi.nlm.nih.gov/pubmed/23379534
http://dx.doi.org/10.1186/1750-1172-8-20

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3637806/
https://www.ncbi.nlm.nih.gov/pubmed/23379534
http://dx.doi.org/10.1186/1750-1172-8-20

Ejemplares similares