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Article

Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier.

Ophthalmology - 1 Sept 2001

Craig J E, Baird P N, Healey D L, McNaught A I, McCartney P J, Rait J L, Dickinson J L, Roe L, Fingert J H, Stone E M, Mackey D A

Abstract excerpt

OBJECTIVE: To investigate the phenotype and age-related penetrance of primary open-angle glaucoma (POAG) in Australian families with the most common Myocilin mutation (Gln368STOP). DESIGN: Cross-sectional genetic study. PARTICIPANTS: Eight pedigrees carrying the Gln368STOP mutation were ascertain...

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Identifiers

PMID: 11535458
DOI: 10.1016/s0161-6420(01)00654-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11535458-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier.PMID 11535458Read ↗

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