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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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Dettagli Bibliografici
Pubblicato in:Hum Genet
Autori principali: Xiao, Xueshan, Sun, Wenmin, Ouyang, Jiamin, Li, Shiqiang, Jia, Xiaoyun, Tan, Zhiqun, Hejtmancik, J. Fielding, Zhang, Qingjiong
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer Berlin Heidelberg 2019
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Accesso online: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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