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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Retinitis Pigmentosa and CNGA1[original query]
Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.
PloS one 2014 9 (9): e108721.
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 Takes
Identification of a novel homozygous variant in the CNGA1 gene in a Chinese family with autosomal recessive retinitis pigmentosa.
Molecular medicine reports 2020 7 22 (3): 2516-2520.
Wang Le, Zou Tongdan, Lin Yongqiong, Li Ling, Zhang Peng, Gong Bo, Hao Jilong, Zhang Houb
Case Report: The First Reported Concurrence of Wilson Disease and Bilateral Retinitis Pigmentosa.
Frontiers in medicine 2022 5 9 877752.
Ye Zifan, Jia Xiuhua, Liu Xin, Zhang Qi, Wang Kaijun, Chen M
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