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Article

Mutational spectrum of the CYP1B1 gene in Pakistani patients with primary congenital glaucoma: novel variants and genotype-phenotype correlations.

Molecular vision - 1 Jan 2014

Sheikh Shakeel Ahmed, Waryah Ali Muhammad, Narsani Ashok Kumar, Shaikh Hina, Gilal Imtiaz Ahmed, Shah Khairuddin, Qasim Muhammad, Memon Azam Iqbal, Kewalramani Pitambar, Shaikh Naila

Abstract excerpt

PURPOSE: This study aimed to investigate the role of CYP1B1 mutations in primary congenital glaucoma (PCG) in Pakistani patients. METHODS: After consent was received, 20 families with at least more than one member affected with primary congenital glaucoma were enrolled in the study. The disease was confirmed with standard ophthalmological investigations. Genomic DNA was extracted from whole blood for localization...

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PMID: 25018621
PMCID: PMC4087121

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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