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Article

Analysis of copy number variation using whole genome exon-focused array CGH in Korean patients with primary congenital glaucoma.

Molecular vision - 1 Jan 2011

Lee Ji Hyun, Ki Chang-Seok, Kim Hee-Jung, Suh Wool, Lee Seung-Tae, Kim Jong-Won, Kee Changwon

Abstract excerpt

PURPOSE: Primary congenital glaucoma (PCG) is an autosomal recessive form of glaucoma that manifests within the first year of life and if left untreated, leads to irreversible blindness. Cytochrome P450 1B1 (CYP1B1) is the major gene known to be associated with PCG. The role of the CYP1B1 gene in disease pathogenesis and the relatively low detection rate of CYP1B1 mutations in some populations, especially Asians,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22219654
PMCID: PMC3250374

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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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