Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants

Variants in the retinitis pigmentosa GTPase regulator (RPGR) gene are a major cause of X-linked inherited retinal disorder (IRD). We herein describe the clinical and genetic features of 14 patients from 13 Japanese families harboring RPGR variants in a nationwide cohort. Comprehensive ophthalmologic...

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Vydáno v:Hum Genome Var
Hlavní autoři: Mawatari, Go, Fujinami, Kaoru, Liu, Xiao, Yang, Lizhu, Yokokawa, Yu-Fujinami, Komori, Shiori, Ueno, Shinji, Terasaki, Hiroko, Katagiri, Satoshi, Hayashi, Takaaki, Kuniyoshi, Kazuki, Miyake, Yozo, Tsunoda, Kazushige, Yoshitake, Kazutoshi, Iwata, Takeshi, Nao-i, Nobuhisa
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2019
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6804603/
https://ncbi.nlm.nih.gov/pubmed/31645972
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-019-0065-7
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