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Article

Characterization of the biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma.

Pharmacogenetics and genomics - 1 Aug 2008

Choudhary Dharamainder, Jansson Ingela, Sarfarazi Mansoor, Schenkman John B

Abstract excerpt

OBJECTIVE: The objective of this study was to examine the biochemical and physical properties of cytochrome P450 1B1 (CYP1B1) mutants, test our hypothesis that primary congenital glaucoma (PCG)-causing mutants have altered metabolic activity, and correlate these to structural changes in the molecule. METHODS: CYP1B1.1 cDNA was mutated to four forms found in individuals with the PCG phenotype, Y81N, E229K, A330F,...

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Identifiers

PMID: 18622259
DOI: 10.1097/FPC.0b013e3282ff5a36

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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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