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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Mol Vis
Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: Molecular Vision 2016
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5070570/
https://ncbi.nlm.nih.gov/pubmed/27777503
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker