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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Detalles Bibliográficos
Autores principales: Xiao, Xueshan, Sun, Wenmin, Ouyang, Jiamin, Li, Shiqiang, Jia, Xiaoyun, Tan, Zhiqun, Hejtmancik, J. Fielding, Zhang, Qingjiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2019
Materias:
Original Investigation
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

Internet

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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