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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Bibliografiske detaljer
Udgivet i:Hum Genet
Main Authors: Xiao, Xueshan, Sun, Wenmin, Ouyang, Jiamin, Li, Shiqiang, Jia, Xiaoyun, Tan, Zhiqun, Hejtmancik, J. Fielding, Zhang, Qingjiong
Format: Artigo
Sprog:Inglês
Udgivet: Springer Berlin Heidelberg 2019
Fag:
Original Investigation
Online adgang: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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