Is confirmatory genetic testing of all CF screen positives justified?
Abstract
Thiopurine compounds are commonly used in the treatment of childhood acute lymphoblastic leukemia, and as immunosuppressants following organ transplantation or for treatment of various autoimmune disorders. Thiopurine S-methyltransferase (TPMT) is required for detoxification, through S-methylation, of 6-thioguanine nucleotides (TGNs), a byproduct of thiopurine metabolism. Single nucleotide polymorphisms (SNPs) in the TPMT gene have been shown to...
Paper Details
Title
Is confirmatory genetic testing of all CF screen positives justified?
Published Date
Oct 1, 2014
Journal
Volume
47
Issue
15
Pages
135 - 135
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