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Article

Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma.

Journal of medical genetics - 1 Dec 1998

Stoilova D, Child A, Brice G, Desai T, Barsoum-Homsy M, Ozdemir N, Chevrette L, Adam M F, Garchon H J, Pitts Crick R, Sarfarazi M

Abstract excerpt

Mutations in the trabecular meshwork induced glucocorticoid response protein (TIGR) or myocilin (MYOC) has recently been shown to cause juvenile onset primary open angle glaucoma (JOAG). In this study, we identified two new mutations (Asp380Ala and Ser502Pro) in two British families and another (Pro370Leu) in a French-Canadian family. These mutations were not present in a total of 106 normal chromosomes. In...

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Source

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Identifiers

PMID: 9863594
DOI: 10.1136/jmg.35.12.989
PMCID: PMC1051509

Genes

MYOC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma.PMID 9863594Read ↗

Clinical phenotype of a Japanese family with primary open angle glaucoma caused by a Pro370Leu mutation in the MYOC/TIGR gene.Semantic proximity Read ↗

Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma.Semantic proximity Read ↗

GLC1A mutations point to regions of potential functional importance on the TIGR/MYOC protein.Semantic proximity Read ↗

Myocilin gene mutations: A cause of juvenile open-angle glaucoma in north IndiaSemantic proximity Read ↗

[Study on MYOC/TIGR gene mutations in primary open-angle glaucoma].Semantic proximity Read ↗

Association of a single nucleotide polymorphism in the TIGR/MYOCILIN gene promoter with the severity of primary open-angle glaucoma.Semantic proximity Read ↗

Keeping an Eye on Myocilin: A Complex Molecule Associated with Primary Open-Angle Glaucoma SusceptibilitySemantic proximity Read ↗

Identification of a new 'TIGR' mutation in a family with juvenile-onset primary open angle glaucoma.Semantic proximity Read ↗

Recent advances in molecular genetics of glaucomasSemantic proximity Read ↗

Analysis of glaucoma genes in Finnish patients with juvenile open-angle glaucoma.Semantic proximity Read ↗

Novel trabecular meshwork inducible glucocorticoid response mutation in an eight-generation juvenile-onset primary open-angle glaucoma pedigree.Semantic proximity Read ↗

A sequence change (Arg158Gln) in the leucine zipper-like motif region of the MYOC/TIGR protein.Semantic proximity Read ↗

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