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Article

Mutations in the optineurin gene in Japanese patients with primary open-angle glaucoma and normal tension glaucoma.

American journal of medical genetics. Part A - 15 Feb 2004

Toda Yoshiki, Tang Sa, Kashiwagi Kenji, Mabuchi Fumihiko, Iijima Hiroyuki, Tsukahara Shigeo, Yamagata Zentaro

Abstract excerpt

The optineurin gene (OPTN) was identified as a gene that causes primary open-angle glaucoma (POAG) and normal tension glaucoma (NTG). To investigate the frequency of sequence changes in OPTN in Japanese glaucoma patients, single-strand conformation polymorphism analysis and subsequent sequence analysis were performed for genotyping OPTN in 165 unrelated Japanese patients with POAG and 148 patients with NTG, with...

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Source

Identifiers

PMID: 14755458
DOI: 10.1002/ajmg.a.20439

Genes

OPTN

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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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Mutations in the optineurin gene in Japanese patients with primary open-angle glaucoma and normal tension glaucoma.PMID 14755458Read ↗

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