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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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Bibliografske podrobnosti
izdano v: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
Format: Artigo
Jezik:Inglês
Izdano: Public Library of Science 2017
Teme:
Online dostop: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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