Article
Exome sequencing and array-based comparative genomic hybridisation analysis of preferential 6-methylmercaptopurine producers.
The pharmacogenomics journal - 1 Oct 2015
Chua E W, Cree S, Barclay M L, Doudney K, Lehnert K, Aitchison A, Kennedy M A
Abstract excerpt
Preferential conversion of azathioprine or 6-mercaptopurine into methylated metabolites is a major cause of thiopurine resistance. To seek potentially Mendelian causes of thiopurine hypermethylation, we recruited 12 individuals who exhibited extreme therapeutic resistance while taking azathioprine or 6-mercaptopurine and performed whole-exome sequencing (WES) and copy-number variant analysis by array-based...
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