Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: Retinitis Pigmentosa and C2orf71[original query] |
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A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls. Investigative ophthalmology & visual science 2011 Mar 52 (3): 1880-6. Sergouniotis Panagiotis I, Li Zheng, Mackay Donna S, Wright Genevieve A, Borman Arundhati Dev, Devery Sophie R, Moore Anthony T, Webster Andrew |
Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies. PloS one 2014 12 9 (12): e116176. González-del Pozo María, Méndez-Vidal Cristina, Bravo-Gil Nereida, Vela-Boza Alicia, Dopazo Joaquin, Borrego Salud, Antiñolo Guiller |
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 |
Genetic Screening of the Usher Syndrome in Cuba. Frontiers in genetics 2019 6 10 501. Santana Elayne E, Fuster-García Carla, Aller Elena, Jaijo Teresa, García-Bohórquez Belén, García-García Gema, Millán José M, Lantigua Arace |
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- Page last updated:May 06, 2024
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