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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 - 5 (of 5 Records)

Query Trace: Disease and NR2E3[original query]
The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa.
Molecular vision 2007 13 1970-5.
Gire Anisa I, Sullivan Lori S, Bowne Sara J, Birch David G, Hughbanks-Wheaton Dianna, Heckenlively John R, Daiger Stephen
Association of NR2E3 but not NRL mutations with retinitis pigmentosa in the Chinese population.
Investigative ophthalmology & visual science 2010 Apr 51 (4): 2229-35.
Yang Yaping, Zhang Xin, Chen Li Jia, Chiang Sylvia W Y, Tam Pancy O S, Lai Timothy Y Y, Chan Carmen K M, Wang Ningli, Lam Dennis S C, Pang Chi P
Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa.
Investigative ophthalmology & visual science 2013 Sep 54 (9): 6255-61.
Sullivan Lori S, Bowne Sara J, Reeves Melissa J, Blain Delphine, Goetz Kerry, Ndifor Vida, Vitez Sally, Wang Xinjing, Tumminia Santa J, Daiger Stephen
Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing.
Molecular vision 2013 19 654-64.
de Sousa Dias Miguel, Hernan Imma, Pascual Beatriz, Borràs Emma, Mañé Begoña, Gamundi Maria José, Carballo Migu
Simultaneous Detection of Common Founder Mutations Using a Cost-Effective Deep Sequencing Panel.
Genes 2024 5 15 (5): .
Sapir Shalom, Mor Hanany, Avital Eilat, Itay Chowers, Tamar Ben-Yosef, Samer Khateb, Eyal Banin, Dror Shar
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