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

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 contributi...

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Bibliografische gegevens
Hoofdauteurs: Caroline Van Cauwenbergh, Frauke Coppieters, Dimitri Roels, Sarah De Jaegere, Helena Flipts, Julie De Zaeytijd, Sophie Walraedt, Charlotte Claes, Erik Fransen, Guy Van Camp, Fanny Depasse, Ingele Casteels, Thomy de Ravel, Bart P Leroy, Elfride De Baere
Formaat: Artikel
Taal:English
Gepubliceerd in: Public Library of Science (PLoS) 2017-01-01
Reeks:PLoS ONE
Online toegang:http://europepmc.org/articles/PMC5226823?pdf=render

Internet

http://europepmc.org/articles/PMC5226823?pdf=render

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