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Article

Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma.

Molecular vision - 1 Jan 2008

Firasat Sabika, Riazuddin S Amer, Khan Shaheen N, Riazuddin Sheikh

Abstract excerpt

PURPOSE: To identify the disease-causing mutations in three consanguineous Pakistani families with multiple members affected by primary congenital glaucoma. METHODS: Blood samples were collected, and DNA was extracted. Linkage analysis for reported primary congenital glaucoma loci was performed using closely spaced polymorphic microsatellite markers on genomic DNA from affected and unaffected family members. All...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 18989382
PMCID: PMC2579935

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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