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Article

Genetic variants through exome sequencing in Spanish patients affected by primary congenital glaucoma and juvenile open-angle glaucoma.

Molecular vision - 1 Jan 2025

Laguna Javier, Labay-Tejado Sara, Potrony Míriam, Pinyol Laura, Vendrell Cristina, Sánchez Aurora, Badenas Celia, Opazo-Toro Valeria, Jodar Meritxell, Milla Elena

Abstract excerpt

Purpose: To evaluate the genetic characteristics using whole-exome sequencing (WES), aiming to assess the potential of this approach for accurate diagnoses and to explore the genetic factors underlying these conditions. Methods: A total of 28 patients, including 6 with primary congenital glaucoma and 22 with juvenile open-angle glaucoma, were studied. Genetic analysis involved initial Sanger sequencing for the...

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Share to Cytochrome P-450 CYP1B1
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41867382
PMCID: PMC13002345

Genes

CYP1B1
MYOC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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