Sökning: "gilberts syndrom"

Hittade 1 uppsats innehållade orden gilberts syndrom.

  1. 1. IRINOTECANTOXICITY RELATED TO GILBERT´S SYNDROME   - COMPARISON OF THREE METHODS FOR GENOTYPING OF UGT1A1 (TA)n

    Magister-uppsats, Institutionen för medicinsk biokemi och mikrobiologi

    Författare :Lena Fredriksson; [2009]
    Nyckelord :Fragment analysis; genetic analysis; Gilbert´s syndrome; irinotecan; TATA box; UDP Glucuronosyl-transferase 1A1; UGT1A1 *28;

    Sammanfattning : Gilbert’s syndrome (GS) occurs in approximately 10% of the European population. The most common cause is homozygosity for UGT1A1*28, which is a TA repeat expansion in the promoter of UGT1A1. It is characterised by intermittent hyperbilirubinemia due to reduced hepatic activity of the  enzyme UDP-glucuronosyl-transferase 1A1(UGT1A1). LÄS MER