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ABCB4 and ABCB11 mutations in intrahepatic cholestasis of pregnancy in an Italian population

✍ Scribed by Anzivino, Claudia; Odoardi, Maria Rosaria; Meschiari, Erica; Baldelli, Enrica; Facchinetti, Fabio; Neri, Isabella; Ruggiero, Giuseppe; Zampino, Rosa; Bertolotti, Marco; Loria, Paola; Carulli, Lucia


Book ID
123484200
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
398 KB
Volume
45
Category
Article
ISSN
1590-8658

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Intrahepatic cholestasis of pregnancy (ICP) is defined as pruritus and elevated bile acid serum concentrations in late pregnancy. Splicing mutations have been described in the multidrug resistance p-glycoprotein 3 (MDR3, ABCB4) gene in up to 20% of ICP women. Pedigrees studied were not large enough