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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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Detalles Bibliográficos
Autores principales:	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:	Online Artículo Texto
Lenguaje:	English
Publicado:	D.A. Spandidos 2017
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548055/ https://www.ncbi.nlm.nih.gov/pubmed/28677725 http://dx.doi.org/10.3892/mmr.2017.6887

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