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Article

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

Human genetics - 1 Feb 2003

Baird Paul N, Craig Jamie E, Richardson Andrea J, Ring Maree A, Sim Pamela, Stanwix Sue, Foote Simon J, Mackey David A

Abstract excerpt

Primary open-angle glaucoma (POAG) is a leading cause of blindness in the world. A number of mutations in the myocilin gene have been identified that predispose to glaucoma. The most frequent of these is the Glutamine368STOP (Q368STOP) mutation. It has been postulated that individuals with the Q368STOP mutation are derived from a common founder. To clarify this situation, we studied 15 unrelated POAG families who...

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Identifiers

PMID: 12522550
DOI: 10.1007/s00439-002-0865-5

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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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Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin.PMID 12522550Read ↗

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