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Article

[A preliminary study on gene mutation and its function in a large family (GZ.1 pedigree) with open-angle glaucoma].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology - 1 Dec 2005

Wei Yan-tao, Duan Shan, Ge Jian, Zhuo Ye-hong, Ling Yun-lan, Lin Ming-kai, Gao Qian-ying

Abstract excerpt

OBJECTIVE: To determine the causative mutation of myocilin gene and to investigate its pathogenic function in a large Chinese pedigree (GZ.1) with familial open-angle glaucoma. METHODS: Genome-wide scanning was performed and the Lod scores were calculated. Candidate gene was amplified and screened for mutations using direct sequencing. To elucidate its expression, distribution and cytotoxicity of mutant myocilin,...

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PMID: 16409756

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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