Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease

PURPOSE: To identify the gene causing a severe form of progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease and to characterize clinical features in a large American family. METHODS: We characterized an American family who had an unusual retinal dystrophy with clinical...

Descripción completa

Detalles Bibliográficos
Autores principales: Xi, Quansheng, Li, Lin, Traboulsi, Elias I., Wang, Qing Kenneth
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2665199/
https://www.ncbi.nlm.nih.gov/pubmed/19352439

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2665199/
https://www.ncbi.nlm.nih.gov/pubmed/19352439

Ejemplares similares