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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...

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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

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