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Article

Glaucoma phenotype in a large Chinese family with myocilin Val251Ala mutation.

Genomics - 1 Nov 2020

Lu Hong, Chen Ying, Kong Yanan, Liu Xingxing, Li Na, Zhang Shuqiang, Xu Hui

Abstract excerpt

Family study is an effective way to identify disease-causing mutations (DCMs) and characterize the clinical phenotype of genetic diseases. In this study we recruited a Chinese primary open-angle glaucoma (POAG) family spanning six generations and consisting 112 individuals, in which 63 were participated in. Targeted exome sequencing on the proband identified a heterozygous mutation (c.752T>C, p.Val251Ala) in MYOC...

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Identifiers

PMID: 32937162
DOI: 10.1016/j.ygeno.2020.09.013

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