HuGE Literature Finder
Records 1-4
A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa.
Investigative ophthalmology & visual science 2015 Nov 56 (12): 7418-26. Van Schil Kristof, Klevering B Jeroen, Leroy Bart P, Pott Jan Willem R, Bandah-Rozenfeld Dikla, Zonneveld-Vrieling Marijke N, Sharon Dror, den Hollander Anneke I, Cremers Frans P M, De Baere Elfride, Collin Rob W J, van den Born L Ingebor |
Diverse clinical phenotypes associated with a nonsense mutation in FAM161A.
Eye (London, England) 2015 Sep 29 (9): 1226-32. Rose A M, Sergouniotis P, Alfano G, Muspratt-Tucker N, Barton S, Moore A T, Black G, Bhattacharya S S, Webster A |
Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population.
Journal of human genetics 2015 Aug . Zhou Yu, Saikia Bibhuti B, Jiang Zhilin, Zhu Xiong, Liu Yuqing, Huang Lulin, Kim Ramasamy, Yang Yin, Qu Chao, Hao Fang, Gong Bo, Tai Zhengfu, Niu Lihong, Yang Zhenglin, Sundaresan Periasamy, Zhu Xianj |
Molecular genetics of FAM161A in North American patients with early-onset retinitis pigmentosa.
PloS one 2014 9 (3): e92479. Venturini Giulia, Di Gioia Silvio Alessandro, Harper Shyana, Weigel-DiFranco Carol, Rivolta Carlo, Berson Eliot |
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