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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...

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Publicado no: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.
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2016
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5070570/
https://ncbi.nlm.nih.gov/pubmed/27777503
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