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[Analysis of mutation of BIGH3 gene in Chinese patients with corneal dystrophies].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology - 1 Oct 2003

Yu Jie, Zou Liu-he, He Jiu-cheng, Liu Ning-pu, Zhang Wei, Lu Lan, Sun Xu-guang, Dong Dong-sheng, Wu Yu-ying, Yin Xiao-tang

Abstract excerpt

OBJECTIVE: To study whether Chinese patients with various corneal dystrophy carry mutations in BIGH3 gene. METHODS: Genomic DNA was extracted from Chinese patients with Avellino corneal dystrophy (ACD, 10 cases), Reis-Bücklers corneal dystrophy (CDRB, 2 cases), granular corneal dystrophy (GCD, 3 cases) and 5 control subjects. The exons 4 and 12 of BIGH3 gene were amplified by PCR and the product was sequenced...

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Identifiers

PMID: 14766070

Genes

ACD

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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