Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis

X-linked congenital retinoschisis (XLRS) is an inherited retinal disorder characterized by reduced central vision and schisis of the macula and peripheral retina. XLRS is caused by mutations in the RS1 gene. We have identified 37 different mutations in the RS1 gene, including 12 novel mutations, in...

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Bibliografiske detaljer
Udgivet i:Hum Genome Var
Main Authors: Kondo, Hiroyuki, Oku, Kazuma, Katagiri, Satoshi, Hayashi, Takaaki, Nakano, Tadashi, Iwata, Akiko, Kuniyoshi, Kazuki, Kusaka, Shunji, Hiyoshi, Atsushi, Uchio, Eiichi, Kondo, Mineo, Oishi, Noriko, Kameya, Shuhei, Mizota, Atsushi, Naoi, Nobuhisa, Ueno, Shinji, Terasaki, Hiroko, Morimoto, Takeshi, Iwaki, Masayoshi, Yoshitake, Kazutoshi, Iejima, Daisuke, Fujinami, Kaoru, Tsunoda, Kazushige, Shinoda, Kei, Iwata, Takeshi
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2019
Fag:
Data Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6325138/
https://ncbi.nlm.nih.gov/pubmed/30652005
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-018-0034-6
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