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Article

Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)

The New England journal of medicine - 9 Apr 1998

Alward W L, Fingert J H, Coote M A, Johnson A T, Lerner S F, Junqua D, Durcan F J, McCartney P J, Mackey D A, Sheffield V C, Stone E M

Abstract excerpt

BACKGROUND: A substantial proportion of cases of glaucoma have a genetic basis. Mutations causing glaucoma have been identified in the chromosome 1 open-angle glaucoma gene (GLC1A), which encodes a 57-kd protein known as myocilin. The normal role of this protein and the mechanism by which mutatio...

Topics

Age of Onset
Aged
Case-Control Studies
Chromosomes, Human, Pair 1
Cytoskeletal Proteins
Eye Proteins
Female
Glaucoma, Open-Angle
Glycoproteins
Humans
Lod Score
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

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Identifiers

PMID: 9535666
DOI: 10.1056/NEJM199804093381503

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9535666-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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