Article
Rapid allelic discrimination by TaqMan PCR for the detection of the Gilbert's syndrome marker UGT1A1*28.
The Journal of molecular diagnostics : JMD - 1 Nov 2008
Ehmer Ursula, Lankisch Tim O, Erichsen Thomas J, Kalthoff Sandra, Freiberg Nicole, Wehmeier Michael, Manns Michael P, Strassburg Christian P
Abstract excerpt
Gilbert's syndrome causes mild, unconjugated hyperbilirubinemia and is present in approximately 10% of the Caucasian population. The basis of the disorder is a 70% reduction in bilirubin glucuronidation catalyzed by the UDP-glucuronosyltransferase 1A1 (UGT1A1), which, in Caucasians, is the result of a homozygous TA insertion into the promoter region of the UGT1A1 gene (UGT1A1*28). Homozygous carriers of UGT1A1*28...
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