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Mutation spectrum of PAX6 and clinical findings in 95 Chinese patients with aniridia

PURPOSE: Aniridia is a rare congenital panocular disease caused by mutations in PAX6. The purposes of this study were to clarify the mutation features of PAX6 in a cohort of Chinese patients with aniridia and to describe their clinical characteristics. METHODS: We recruited 95 patients from 65 unrel...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:Mol Vis
Päätekijät: You, Bing, Zhang, Xiaohui, Xu, Ke, Xie, Yue, Ye, Hanwen, Li, Yang
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Molecular Vision 2020
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7093334/
https://ncbi.nlm.nih.gov/pubmed/32214788
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