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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...
Autores principales: | Xiao, Xueshan, Sun, Wenmin, Ouyang, Jiamin, Li, Shiqiang, Jia, Xiaoyun, Tan, Zhiqun, Hejtmancik, J. Fielding, Zhang, Qingjiong |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6745028/ https://www.ncbi.nlm.nih.gov/pubmed/31172260 http://dx.doi.org/10.1007/s00439-019-02039-z |
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