Article
A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa.
Investigative ophthalmology & visual science - 4 Sept 2014
Sullivan Lori S, Koboldt Daniel C, Bowne Sara J, Lang Steven, Blanton Susan H, Cadena Elizabeth, Avery Cheryl E, Lewis Richard A, Webb-Jones Kaylie, Wheaton Dianna H, Birch David G, Coussa Razck, Ren Huanan, Lopez Irma, Chakarova Christina, Koenekoop Robert K, Garcia Charles A, Fulton Robert S, Wilson Richard K, Weinstock George M, Daiger Stephen P
Abstract excerpt
PURPOSE: To identify the cause of retinitis pigmentosa (RP) in UTAD003, a large, six-generation Louisiana family with autosomal dominant retinitis pigmentosa (adRP). METHODS: A series of strategies, including candidate gene screening, linkage exclusion, genome-wide linkage mapping, and whole-exome next-generation sequencing, was used to identify a mutation in a novel disease gene on chromosome 10q22.1. Probands...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.