Human Genome Epidemiology Literature Finder
Records 1 - 3 (of 3 Records) |
Query Trace: Retinal Diseases and MERTK[original query] |
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An intronic LINE-1 insertion in MERTK is strongly associated with retinopathy in Swedish Vallhund dogs. PloS one 2017 8 12 (8): e0183021. Everson Richard, Pettitt Louise, Forman Oliver P, Dower-Tylee Olivia, McLaughlin Bryan, Ahonen Saija, Kaukonen Maria, Komáromy András M, Lohi Hannes, Mellersh Cathryn S, Sansom Jane, Ricketts Sally |
Targeted Next-Generation Sequencing Reveals a Novel Frameshift Mutation in the MERTK Gene in a Chinese Family with Retinitis Pigmentosa. Genetic testing and molecular biomarkers 2018 2 22 (3): 165-169. Yang Mu, Li Shujin, Liu Wenjing, Yang Yeming, Zhang Lin, Zhang Shanshan, Jiang Zhilin, Yang Zhenglin, Zhu Xianj |
Non-homologous recombination between Alu and LINE-1 repeats results in a 91 kb deletion in MERTK causing severe retinitis pigmentosa. Molecular vision 2018 11 24 667-678. Jonsson Frida, Burstedt Marie, Kellgren Therese G, Golovleva Iri |
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- Page last updated:Apr 22, 2024
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