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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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Podrobná bibliografie
Vydáno v:Mol Med Rep
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: D.A. Spandidos 2017
Témata:
On-line přístup: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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