%0 Journal Article
%T Clinical findings of end-stage retinitis pigmentosa with a homozygous PDE6A variant (p.R653X)
%A Kaoru Fujinami
%A Kazuki Kuniyoshi
%A Kazushige Tsunoda
%A Kazutoshi Yoshitake
%A Kei Mizobuchi
%A Reimi Mishima
%A Tadashi Nakano
%A Takaaki Hayashi
%A Takeshi Iwata
%J Archive of "American Journal of Ophthalmology Case Reports".
%D 2019
%R 10.1016/j.ajoc.2018.12.019
%X To report clinical and genetic features of a Japanese patient with end-stage retinitis pigmentosa (RP) caused by a homozygous PDE6A variant
%K Retinitis pigmentosa
%K PDE6A
%K Japanese
%K Next generation sequencing
%K Chorioretinal atrophy
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6307093/