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

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 m...

Full description

Bibliographic Details
Main Authors: Na Song, Lin Leng, Xue-Jiao Yang, Yu-Qing Zhang, Chun Tang, Wen-Shi Chen, Wei Zhu, Xian Yang
Format: Article
Language:English
Published: Press of International Journal of Ophthalmology (IJO PRESS) 2019-06-01
Series:International Journal of Ophthalmology
Subjects:
primary congenital glaucoma
cyp1b1 gene
missense mutation
protein structure
Online Access:http://www.ijo.cn/en_publish/2019/6/20190605.pdf

Internet

http://www.ijo.cn/en_publish/2019/6/20190605.pdf

Similar Items