Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

PURPOSE: Autosomal dominant retinitis pigmentosa (adRP) is characterized by an extensive genetic heterogeneity, implicating 27 genes, which account for 50 to 70% of cases. Here 86 Belgian probands with possible adRP underwent genetic testing to unravel the molecular basis and to assess the contribut...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Van Cauwenbergh, Caroline, Coppieters, Frauke, Roels, Dimitri, De Jaegere, Sarah, Flipts, Helena, De Zaeytijd, Julie, Walraedt, Sophie, Claes, Charlotte, Fransen, Erik, Van Camp, Guy, Depasse, Fanny, Casteels, Ingele, de Ravel, Thomy, Leroy, Bart P., De Baere, Elfride
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2017
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5226823/
https://ncbi.nlm.nih.gov/pubmed/28076437
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0170038
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