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Article

Functional analysis of CYP1B1 mutations and association of heterozygous hypomorphic alleles with primary open-angle glaucoma.

Clinical genetics - 1 Jan 2010

López-Garrido M-P, Blanco-Marchite C, Sánchez-Sánchez F, López-Sánchez E, Chaqués-Alepuz V, Campos-Mollo E, Salinas-Sánchez A S, Escribano J

Abstract excerpt

Glaucoma is an inherited complex and heterogeneous disease, and one of the most prevalent causes of definitive blindness in the world. Recent reports have indicated that heterozygous mutations of the CYTOCHOROME P4501B1 (CYP1B1) gene are present in 4-10% of patients with primary open-angle glauco...

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PMID: 19793111
DOI: 10.1111/j.1399-0004.2009.01284.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19793111-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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