A novel MYOC heterzygous mutation identified in a Chinese Uygur pedigree with primary open-angle glaucoma

@inproceedings{Cai2012ANM,
  title={A novel MYOC heterzygous mutation identified in a Chinese Uygur pedigree with primary open-angle glaucoma},
  author={Su-ping Cai and Paerheti Muhemaiti and Yan Yin and Hongbo Cheng and A. Di Ya and Maliyamu Keyimu and Xu Cao and Ning Fan and Liqiong Jiang and Naihong Yan and Xiaomin Zhou and Yun Wang and Xuyang Liu},
  booktitle={Molecular vision},
  year={2012}
}
PURPOSE To characterize the clinical features of a Chinese Uygur pedigree with primary open-angle glaucoma (POAG) and to identify mutations in two candidate genes, trabecular meshwork inducible glucocorticoid response (MYOC/TIGR) and human dioxin-inducible cytochrome P450 (CYP1B1). METHODS Twenty one members from a Chinese Uygur family of four generations were included in the study. All participants underwent complete ophthalmologic examinations. Five were diagnosed as POAG, four as glaucoma… CONTINUE READING

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