Two heterozygous mutations identified in one Chinese patient with bilateral macular coloboma

Congenital macular coloboma is characterized by defined punched out atrophic lesions of the macula. The present study aimed to investigate the genetic alterations of one Chinese sporadic patient with bilateral large macular coloboma. Complete ophthalmic examinations, including best-corrected visual...

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Detalhes bibliográficos
Publicado no:Mol Med Rep
Main Authors: Li, Tao, Lin, Ying, Gao, Hongbin, Chen, Chuan, Zhu, Yi, Liu, Bingqian, Lian, Yu, Li, Yonghao, Zhou, Wenli, Jiang, Hongye, Li, Haichun, Wu, Qingxiu, Liang, Xiaoling, Jin, Chenjin, Huang, Xinhua, Lu, Lin
Formato: Artigo
Idioma:Inglês
Publicado em: D.A. Spandidos 2017
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5548055/
https://ncbi.nlm.nih.gov/pubmed/28677725
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2017.6887
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