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Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12–q13.3

High hyperopia is a common and severe form of refractive error. Genetic factors play important roles in the development of high hyperopia but the exact gene responsible for this condition is mostly unknown. We identified a large Chinese family with autosomal dominant high hyperopia. A genome-wide li...

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Detalhes bibliográficos
Publicado no:Hum Genet
Main Authors: Xiao, Xueshan, Sun, Wenmin, Ouyang, Jiamin, Li, Shiqiang, Jia, Xiaoyun, Tan, Zhiqun, Hejtmancik, J. Fielding, Zhang, Qingjiong
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2019
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6745028/
https://ncbi.nlm.nih.gov/pubmed/31172260
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-019-02039-z
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