GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity

PURPOSE: The aim of this study was to investigate the genetic basis and pathogenic mechanism of variable maculopathies, ranging from mild photoreceptor degeneration to central areolar choroidal dystrophy, in a five-generation family. METHODS: Clinical characterizations, whole-exome sequencing, and g...

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Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: Chen, Xue, Sheng, Xunlun, Zhuang, Wenjuan, Sun, Xiantao, Liu, Guohua, Shi, Xun, Huang, Guofu, Mei, Yan, Li, Yingjie, Pan, Xinyuan, Liu, Yani, Li, Zili, Zhao, Qingshun, Yan, Biao, Zhao, Chen
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2017
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Original Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5548935/
https://ncbi.nlm.nih.gov/pubmed/28125083
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2016.217
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