Whole Exome Analysis Identifies Frequent CNGA1 Mutations in Japanese Population with Autosomal Recessive Retinitis Pigmentosa

OBJECTIVE: The purpose of this study was to investigate frequent disease-causing gene mutations in autosomal recessive retinitis pigmentosa (arRP) in the Japanese population. METHODS: In total, 99 Japanese patients with non-syndromic and unrelated arRP or sporadic RP (spRP) were recruited in this st...

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Hlavní autoři: Katagiri, Satoshi, Akahori, Masakazu, Sergeev, Yuri, Yoshitake, Kazutoshi, Ikeo, Kazuho, Furuno, Masaaki, Hayashi, Takaaki, Kondo, Mineo, Ueno, Shinji, Tsunoda, Kazushige, Shinoda, Kei, Kuniyoshi, Kazuki, Tsurusaki, Yohinori, Matsumoto, Naomichi, Tsuneoka, Hiroshi, Iwata, Takeshi
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2014
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4182560/
https://ncbi.nlm.nih.gov/pubmed/25268133
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0108721
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