North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the PRDM13 gene

PURPOSE: To identify the underlying cause of disease in a large family with North Carolina macular dystrophy (NCMD). METHODS: A large four-generation family (RFS355) with an autosomal dominant form of NCMD was ascertained. Family members underwent comprehensive visual function evaluations. Blood or...

Descripción completa

Detalles Bibliográficos
Autores principales: Bowne, Sara J., Sullivan, Lori S., Wheaton, Dianna K., Locke, Kirsten G., Jones, Kaylie D., Koboldt, Daniel C., Fulton, Robert S., Wilson, Richard K., Blanton, Susan H., Birch, David G., Daiger, Stephen P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5070570/
https://www.ncbi.nlm.nih.gov/pubmed/27777503

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5070570/
https://www.ncbi.nlm.nih.gov/pubmed/27777503

Ejemplares similares