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Article

Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Jan 2007

Hewitt Alex W, Bennett Sonya L, Richards Julia E, Dimasi David P, Booth Adam P, Inglehearn Chris, Anwar Rashida, Yamamoto Tetsuya, Fingert John H, Héon Elise, Craig Jamie E, Mackey David A

Abstract excerpt

OBJECTIVE: To determine the phenotype of an Australian pedigree with the myocilin (MYOC) Gly252Arg mutation, comparing it with other pedigrees carrying the same mutation. METHODS: All recruited subjects underwent a comprehensive clinical examination, including optic disc assessment, applanation tonometry, and visual field measurement. Mutation analysis was performed through direct sequencing. Haplotype analysis...

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Identifiers

PMID: 17210859
DOI: 10.1001/archopht.125.1.98

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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