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Robert Radloff, Alain Gras, Ulrich M. Zanger, Cécile Masquelier, Karthik Arumugam, Jean-Claude Karasi, Vic Arendt, Carole Seguin-Devaux and Kathrin Klein Novel CYP2B6 Enzyme Variants in a Rwandese Population: Functional Characterization and Assessment of In Silico Prediction Tools Human Mutation 34

Version of Record online: 11 MAR 2013 | DOI: 10.1002/humu.22295

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This study describes new genetic variants of cytochrome P450 (CYP) 2B6 discovered by a sequencing approach in a prevention of mother-to-child HIV transmission cohort from Rwanda and assessment of their functional impact on bupropion and efavirenz hydroxylation activities. Structural modeling and docking analyses helped to understand functional effects of the mutations. Because low-activity alleles of CYP2B6 are associated with impaired efavirenz metabolism and drug response, these results are of potential utility for personalized treatment strategies in HIV/AIDS therapy.

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