X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers

X-linked retinitis pigmentosa (XLRP) is a type of severe retinal dystrophy, and female carriers of XLRP demonstrate markedly variable clinical severity. In this study, we aimed to elucidate the clinical findings of male patients with and female carriers of XLRP in a Japanese cohort and demonstrate t...

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Vydáno v:Int J Mol Sci
Hlavní autoři: Kurata, Kentaro, Hosono, Katsuhiro, Hayashi, Takaaki, Mizobuchi, Kei, Katagiri, Satoshi, Miyamichi, Daisuke, Nishina, Sachiko, Sato, Miho, Azuma, Noriyuki, Nakano, Tadashi, Hotta, Yoshihiro
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2019
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6470860/
https://ncbi.nlm.nih.gov/pubmed/30917587
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms20061518
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