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Novel variants in PAX6 gene caused congenital aniridia in two Chinese families

PURPOSE: To reveal the underlying genetic defect in two four-generation Chinese families with aniridia and explore the pathologic mechanism. METHODS: Full ophthalmic examinations were performed in two families with aniridia. The PAX6 gene was directly sequenced in patients of two families, and the d...

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Dades bibliogràfiques
Publicat a:Eye (Lond)
Autors principals: Zhang, R, Linpeng, S, Wei, X, Li, H, Huang, Y, Guo, J, Wu, Q, Liang, D, Wu, L
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2017
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5518831/
https://ncbi.nlm.nih.gov/pubmed/28157223
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/eye.2016.326
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