Trio-based exome sequencing arrests de novo mutations in early-onset high myopia

The etiology of the highly myopic condition has been unclear for decades. We investigated the genetic contributions to early-onset high myopia (EOHM), which is defined as having a refraction of less than or equal to −6 diopters before the age of 6, when children are less likely to be exposed to high...

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Pubblicato in:Proc Natl Acad Sci U S A
Autori principali: Jin, Zi-Bing, Wu, Jinyu, Huang, Xiu-Feng, Feng, Chun-Yun, Cai, Xue-Bi, Mao, Jian-Yang, Xiang, Lue, Wu, Kun-Chao, Xiao, Xueshan, Kloss, Bethany A., Li, Zhongshan, Liu, Zhenwei, Huang, Shenghai, Shen, Meixiao, Cheng, Fei-Fei, Cheng, Xue-Wen, Zheng, Zhi-Li, Chen, Xuejiao, Zhuang, Wenjuan, Zhang, Qingjiong, Young, Terri L., Xie, Ting, Lu, Fan, Qu, Jia
Natura: Artigo
Lingua:Inglês
Pubblicazione: National Academy of Sciences 2017
Soggetti:
Biological Sciences
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5402409/
https://ncbi.nlm.nih.gov/pubmed/28373534
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1615970114
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