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Article

Identification of R368H as a predominant CYP1B1 allele causing primary congenital glaucoma in Indian patients.

Investigative ophthalmology & visual science - 1 Oct 2003

Reddy Aramati B M, Panicker Shirly G, Mandal Anil K, Hasnain Seyed E, Balasubramanian Dorairajan

Abstract excerpt

PURPOSE: To investigate the predominant mutation in the CYP1B1 gene in patients in India with primary congenital glaucoma (PCG), using PCR-restriction fragment length polymorphism (RFLP) methods and to characterize the molecular defect in two generations of an affected family. METHODS: DNA samples from 146 patients with PCG from 138 pedigrees were analyzed for several distinct mutations in CYP1B1 by PCR-RFLP....

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Source

Identifiers

PMID: 14507861
DOI: 10.1167/iovs.02-0945

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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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