SLC39A5 mutations interfering with the BMP/TGF-β pathway in non-syndromic high myopia

BACKGROUND: High myopia, with the characteristic feature of refractive error, is one of the leading causes of blindness worldwide. It has a high heritability, but only a few causative genes have been identified and the pathogenesis is still unclear. METHODS: We used whole genome linkage and exome se...

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Detalles Bibliográficos
Autores principales: Guo, Hui, Jin, Xuemin, Zhu, Tengfei, Wang, Tianyun, Tong, Ping, Tian, Lei, Peng, Yu, Sun, Liangdan, Wan, Anran, Chen, Jingjing, Liu, Yanling, Li, Ying, Tian, Qi, Xia, Lu, Zhang, Lusi, Pan, Yongcheng, Lu, Lina, Liu, Qiong, Shen, Lu, Li, Yunping, Xiong, Wei, Li, Jiada, Tang, Beisha, Feng, Yong, Zhang, Xuejun, Zhang, Zhuohua, Pan, Qian, Hu, Zhengmao, Xia, Kun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2014
Materias:
New Disease Loci
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4112430/
https://www.ncbi.nlm.nih.gov/pubmed/24891338
http://dx.doi.org/10.1136/jmedgenet-2014-102351

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