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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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| Vydáno v: | Mol Med Rep |
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| Hlavní autoři: | , , , , , , , , , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
D.A. Spandidos
2017
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| 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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