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Article

Recurrent Myocilin Asn480Lys glaucoma causative mutation arises de novo in a family of Andean descent.

Journal of glaucoma - 1 Jan 2000

Guevara-Fujita Maria Luisa, Perez-Grossmann Rodolfo A, Estrada-Cuzcano Alejandro, Pawar Hemant, Vargas Enrique, Richards Julia E, Fujita Ricardo

Abstract excerpt

PURPOSE: To search for MYOC mutations in Peruvian primary open angle glaucoma (POAG) families. PATIENTS AND METHODS: Two patients from each of the 11 POAG Peruvian families were screened for sequence variants in MYOC coding exons by conformational sensitive gel electrophoresis and sequencing was...

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Source

Identifiers

PMID: 18303389
DOI: 10.1097/IJG.0b013e318133fc5b

Genes

MYOC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18303389-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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