Mullenbach, R.; Tetlow, N.; Patel, N.; Hamilton, G.; Taylor-Robinson, S. D.; Williamson, C.
April 2004
Gut;Apr2004 Supplement 3, Vol. 53, pA16
Academic Journal
Intra-hepatic cholestasis at pregnancy (ICP) is associated with prematurity, fetal distress, and intrauterine death. Homozygous mutations in the ATP8B 1 gene cause cholestasis with a normal serum gamma-glutamyl transpeptidase, and have been reported in two forms of cholestasis; progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis. The role of ATPBB1 in the aetiology of ICP is not known. Authors aimed to establish whether mutations in ATP8B1 are associated with ICP. This is the first demonstration of ATP8B1 mutations in ICP, and the variants reported cause a new phenotype for mutations in this gene.


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