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Article

Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds.

Molecular vision - 28 Mar 2007

Hewitt Alex W, Samples John R, Allingham R Rand, Järvelä Irma, Kitsos George, Krishnadas Subbaiah R, Richards Julia E, Lichter Paul R, Petersen Michael B, Sundaresan Periasamy, Wiggs Janey L, Mackey David A, Wirtz Mary K

Abstract excerpt

PURPOSE: The aim of this study was to determine if there is a common founder for the Thr377Met myocilin mutation in primary open angle glaucoma (POAG) families with various ethnic backgrounds. METHODS: Genomic DNA of 24 POAG-affected individuals from nine pedigrees with the Thr377Met mutation and...

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Source

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Identifiers

PMID: 17417609
PMCID: PMC2649311

Genes

MYOC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-17417609-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds.PMID 17417609Read ↗

A common disease haplotype for the Q368STOP mutation of the myocilin gene in Australian and Canadian glaucoma families.Semantic proximity Read ↗

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Comprehensive analysis of myocilin variants in east Indian POAG patients.Semantic proximity Read ↗

Myocilin Gene Gln368Ter Variant Penetrance and Association With Glaucoma in Population-Based and Registry-Based StudiesSemantic proximity Read ↗

Evaluation of the Myocilin Mutation Gln368Stop Demonstrates Reduced Penetrance for Glaucoma in European Populations.Semantic proximity Read ↗

Association of the MYOC p.(Gln368Ter) Variant With Glaucoma in a Finnish Population.Semantic proximity Read ↗

Identification of a novel MYOC mutation, p.(Trp373), in a family with open angle glaucoma.Semantic proximity Read ↗

Association of POAG risk factors and the Thr377Met MYOC mutation in an isolated Greek population.Semantic proximity Read ↗

Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin.Semantic proximity Read ↗

Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma.Semantic proximity Read ↗

Mutations in MYOC gene of Indian primary open angle glaucoma patients.Semantic proximity Read ↗

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