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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Original Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548935/
https://www.ncbi.nlm.nih.gov/pubmed/28125083
http://dx.doi.org/10.1038/gim.2016.217

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548935/
https://www.ncbi.nlm.nih.gov/pubmed/28125083
http://dx.doi.org/10.1038/gim.2016.217

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