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... Mehr ...
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Dokumenttyp: | journalarticle |
Erscheinungsdatum: | 2017 |
Schlagwörter: | Medicine and Health Sciences / Biology and Life Sciences / ROD-CONE DYSTROPHY / RHODOPSIN GENE / RNA HELICASE / MISSENSE MUTATIONS / CLINICAL-FEATURES / MACULAR DYSTROPHY / PROM1 MUTATION / TRI-SNRNP / PROTEIN / RP1 |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-27304348 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://biblio.ugent.be/publication/8509887 |