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Article

Correction of the disease phenotype of myocilin-causing glaucoma by a natural osmolyte.

Investigative ophthalmology & visual science - 1 Aug 2009

Jia Li-Yun, Gong Bo, Pang Chi-Pui, Huang Yao, Lam Dennis Shun-Chiu, Wang Ningli, Yam Gary Hin-Fai

Abstract excerpt

PURPOSE: To characterize a novel Asp384Asn (D384N) mutant myocilin (MYOC) that causes juvenile-onset open-angle glaucoma (JOAG) and investigate the correction of mutant phenotype by a natural osmolyte, trimethylamine N-oxide (TMAO). METHODS: A Chinese JOAG family was recruited and genomic DNA was extracted from peripheral blood obtained from 44 family members. Coding regions of the MYOC were sequenced. Two...

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Source

Identifiers

PMID: 19234343
DOI: 10.1167/iovs.08-3151

Genes

MYOC

Variants

Provenance

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

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Correction of the disease phenotype of myocilin-causing glaucoma by a natural osmolyte.PMID 19234343Read ↗

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