Article
Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa.
Investigative ophthalmology & visual science - 1 Nov 2016
Astuti Galuh D N, Arno Gavin, Hull Sarah, Pierrache Laurence, Venselaar Hanka, Carss Keren, Raymond F Lucy, Collin Rob W J, Faradz Sultana M H, van den Born L Ingeborgh, Webster Andrew R, Cremers Frans P M
Abstract excerpt
PURPOSE: AGBL5, encoding ATP/GTP binding protein-like 5, was previously proposed as an autosomal recessive retinitis pigmentosa (arRP) candidate gene based on the identification of missense variants in two families. In this study, we performed next-generation sequencing to reveal additional RP cases with AGBL5 variants, including protein-truncating variants. METHODS: Whole-genome sequencing (WGS) or whole-exome...
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