Ontology highlight
ABSTRACT:
SUBMITTER: Huang X
PROVIDER: S-EPMC5857910 | biostudies-literature | 2018 Apr
REPOSITORIES: biostudies-literature
Huang Xiangjun X Yuan Lamei L Xu Hongbo H Zheng Wen W Cao Yanna Y Yi Junhui J Guo Yi Y Yang Zhijian Z Li Yu Y Deng Hao H
Bioscience reports 20180427 2
Retinitis pigmentosa (RP) is a group of hereditary, degenerative retinal disorders characterized by progressive retinal dysfunction, outer retina cell loss, and retinal tissue atrophy. It eventually leads to tunnel vision and legal, or total blindness. Here we aimed to reveal the causal gene and mutation contributing to the development of autosomal recessive RP (arRP) in a consanguineous family. A novel homozygous mutation, c.4845delT (p.K1616Rfs*46), in the ATP-binding cassette subfamily A memb ...[more]