Autosomal dominant benign recurrent intrahepatic cholestasis (BRIC) unlinked to 18q21 and 2q24.
作者： Annarosa Floreani , Mariella Molaro , Monica Mottes , Antonella Sangalli , Anna Baragiotta
DOI: 10.1002/1096-8628(20001218)95:5<450::AID-AJMG8>3.0.CO;2-V
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摘要: Benign recurrent intrahepatic cholestasis (BRIC) is an autosomal recessive liver disease characterized by multiple episodes of without progression to chronic disease. On the basis recent evidence locus heterogeneity, we studied 19 subjects (7 affected members) a BRIC family. Male-to-male transmission and presence females suggested dominant inheritance. Blood samples were collected after informed consent. Subjects genotyped using markers mapping 18q 2q24 region, respectively, where genes FIC1 FIC2 have been mapped. Segregation haplotypes excluded two regions in our These findings suggest further genetic heterogeneity origin BRIC.
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