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Compound heterozygous mutations in CYP1B1 gene leads to severe primary congenital glaucoma phenotype

AIM: To identify the novel mutation alleles in the CYP1B1 gene of primary congenital glaucoma (PCG) patients at Shandong Province of China, and investigate their correlation with glaucomatous features. METHODS: The DNA from the peripheral blood of 13 congenital glaucoma patients and 50 ethnically ma...

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Detalhes bibliográficos
Publicado no:Int J Ophthalmol
Main Authors: Song, Na, Leng, Lin, Yang, Xue-Jiao, Zhang, Yu-Qing, Tang, Chun, Chen, Wen-Shi, Zhu, Wei, Yang, Xian
Formato: Artigo
Idioma:Inglês
Publicado em: International Journal of Ophthalmology Press 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6580207/
https://ncbi.nlm.nih.gov/pubmed/31236345
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18240/ijo.2019.06.05
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