A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family

PURPOSE: To report, for the first time, that X-linked incomplete congenital stationary night blindness (CSNB2A) and Åland island eye disease (AIED) phenotypes coexist in a molecularly confirmed pedigree and to present novel phenotypic characteristics of calcium channel alpha-1F subunit gene (CACNA1F...

Descripción completa

Detalles Bibliográficos
Autores principales: Vincent, Ajoy, Wright, Tom, Day, Megan A., Westall, Carol A., Héon, Elise
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3244487/
https://www.ncbi.nlm.nih.gov/pubmed/22194652

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3244487/
https://www.ncbi.nlm.nih.gov/pubmed/22194652

Ejemplares similares