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Article

Globally, CYP1B1 mutations in primary congenital glaucoma are strongly structured by geographic and haplotype backgrounds.

Investigative ophthalmology & visual science - 1 Jan 2006

Chakrabarti Subhabrata, Kaur Kiranpreet, Kaur Inderjeet, Mandal Anil K, Parikh Rajul S, Thomas Ravi, Majumder Partha P

Abstract excerpt

PURPOSE: To obtain a global perspective on the distribution and evolution of CYP1B1 mutations in primary congenital glaucoma (PCG) worldwide. METHODS: Five intragenic single-nucleotide polymorphisms in CYP1B1-R48G, A119S, V432L, D449D, and N453S-were used to generate haplotype data from 138 Indian patients with PCG and 132 ethnically matched normal controls, which were then analyzed in conjunction with data from...

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PMID: 16384942
DOI: 10.1167/iovs.05-0912

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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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