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Article

[Two variants in MYOC and CYP1B1 genes in a Chinese family with primary angle-closure glaucoma].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2008

Dai Xiaohua, Nie Shangwu, Ke Tie, Liu Jianping, Wang Qing, Liu Mugen

Abstract excerpt

OBJECTIVE: To describe the clinical and genetic characteristics of a Chinese family with primary angle-closure glaucoma (PACG). METHODS: Linkage analysis and DNA sequencing as well as single strand conformation polymorphism (SSCP) analysis were performed to identify the disease-causing mutations. RESULTS: The Arg46Stop mutation in MYOC gene and Leu432Val in CYP1B1 gene were identified in all patients. The digenic...

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Source

Identifiers

PMID: 18841557

Genes

MYOC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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