Ontology highlight
ABSTRACT:
SUBMITTER: Arno G
PROVIDER: S-EPMC5142109 | biostudies-literature | 2016 Dec
REPOSITORIES: biostudies-literature
Arno Gavin G Agrawal Smriti A SA Eblimit Aiden A Bellingham James J Xu Mingchu M Wang Feng F Chakarova Christina C Parfitt David A DA Lane Amelia A Burgoyne Thomas T Hull Sarah S Carss Keren J KJ Fiorentino Alessia A Hayes Matthew J MJ Munro Peter M PM Nicols Ralph R Pontikos Nikolas N Holder Graham E GE Asomugha Chinwe C Raymond F Lucy FL Moore Anthony T AT Plagnol Vincent V Michaelides Michel M Hardcastle Alison J AJ Li Yumei Y Cukras Catherine C Webster Andrew R AR Cheetham Michael E ME Chen Rui R
American journal of human genetics 20161123 6
Retinitis pigmentosa (RP) is the most frequent form of inherited retinal dystrophy. RP is genetically heterogeneous and the genes identified to date encode proteins involved in a wide range of functional pathways, including photoreceptor development, phototransduction, the retinoid cycle, cilia, and outer segment development. Here we report the identification of biallelic mutations in Receptor Expression Enhancer Protein 6 (REEP6) in seven individuals with autosomal-recessive RP from five unrela ...[more]