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 contribution of the genes underlying their condition. METHODS:Mutation detection methods evolved over the past ten years, including mutation specific methods (APEX chip analysis), linkage analysis, gene panel analysis (Sanger sequencing, targeted next-generation sequencing or whole exome sequencing), high-res... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2017 |
Reihe/Periodikum: | PLoS ONE, Vol 12, Iss 1, p e0170038 (2017) |
Verlag/Hrsg.: |
Public Library of Science (PLoS)
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Schlagwörter: | Medicine / R / Science / Q |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-26522958 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://doi.org/10.1371/journal.pone.0170038 |