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Article

CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability.

Molecular vision - 1 Jan 2009

Campos-Mollo Ezequiel, López-Garrido María-Pilar, Blanco-Marchite Cristina, Garcia-Feijoo Julián, Peralta Jesús, Belmonte-Martínez José, Ayuso Carmen, Escribano Julio

Abstract excerpt

PURPOSE: To analyze the contributions of cytochrome P4501B1 (CYP1B1) mutations to primary congenital glaucoma (PCG) in Spanish patients. METHODS: We analyzed, by polymerase chain reaction (PCR) DNA sequencing, the presence of promoter (-1 to -867) and exon CYP1B1 mutations in 38 unrelated Spanish probands affected by PCG. Functional analysis of nine identified mutations was performed measuring ethoxyresorufin...

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PMID: 19234632
PMCID: PMC2645906

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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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