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Article

A novel truncation mutation in GJA1 associated with open angle glaucoma and microcornea in a large Chinese family.

Eye (London, England) - 1 Jul 2015

Huang X, Wang N, Xiao X, Li S, Zhang Q

Abstract excerpt

PURPOSE: To identify genetic defects in a large family with open angle glaucoma (OAG) and microcornea. METHODS: Genomic DNA was prepared from leukocytes of 15 individuals from three generations of a Chinese family, including seven individuals with OAG and microcornea, one with microcornea alone, and seven healthy individuals. Whole exome sequencing was performed on genomic DNA of the proband. Candidate variants...

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Source

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Identifiers

PMID: 25976645
DOI: 10.1038/eye.2015.74
PMCID: PMC4506350

Genes

GJA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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