Article
A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa.
Investigative ophthalmology & visual science - 1 Nov 2015
Van Schil Kristof, Klevering B Jeroen, Leroy Bart P, Pott Jan Willem R, Bandah-Rozenfeld Dikla, Zonneveld-Vrieling Marijke N, Sharon Dror, den Hollander Anneke I, Cremers Frans P M, De Baere Elfride, Collin Rob W J, van den Born L Ingeborgh
Abstract excerpt
PURPOSE: To identify mutations in FAM161A underlying autosomal recessive retinitis pigmentosa (arRP) in the Dutch and Belgian populations and to investigate whether common FAM161A-associated phenotypic features could be identified. METHODS: Homozygosity mapping, amplification-refractory mutation system (ARMS) analysis, and Sanger sequencing were performed to identify mutations in FAM161A. Microsatellite and SNP...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.