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Article

CYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia.

BMC medical genetics - 28 Sept 2014

Badeeb Osama M, Micheal Shazia, Koenekoop Robert K, den Hollander Anneke I, Hedrawi Manal T

Abstract excerpt

BACKGROUND: CYP1B1 is the most commonly mutated gene in primary congenital glaucoma (PCG). This study was undertaken to identify mutations in CYP1B1 in the Western region of Saudi Arabia. METHODS: Blood of patients who had typical findings of PCG, were screened by direct sequencing of all coding exons and splice junctions of the CYP1B1 gene. RESULTS: 34 patients were studied; 18 patients belonged to 8 families,...

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Identifiers

PMID: 25261878
DOI: 10.1186/s12881-014-0109-2
PMCID: PMC4258803

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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