A novel splicing mutation in the PRPH2 gene causes autosomal dominant retinitis pigmentosa in a Chinese pedigree.

Authors :: Cheng J
Fu J
Zhou Q
Xiang X
Wei C
Yang L
Fu S
Khan MA
Lv H
Fu J
Source :: Journal of cellular and molecular medicine [J Cell Mol Med] 2019 May; Vol. 23 (5), pp. 3776-3780. Date of Electronic Publication: 2019 Mar 20.
Publication Year :: 2019

Subjects :: Asian People genetics
Base Sequence
China
Family Health
Female
Genetic Predisposition to Disease ethnology
Humans
Male
Middle Aged
Pedigree
Retinitis Pigmentosa ethnology
Retinitis Pigmentosa pathology
Genes, Dominant
Genetic Predisposition to Disease genetics
Mutation
Peripherins genetics
RNA Splicing genetics
Retinitis Pigmentosa genetics

Full Text Access

Tools