TITLE

ATP8B1 VARIATIONS IN A COHORT OF WOMEN WITH INTRAHEPATIC CHOLESTASIS OF PREGNANCY (ICP)

AUTHOR(S)
Mullenbach, R.; Tetlow, N.; Patel, N.; Hamilton, G.; Taylor-Robinson, S. D.; Williamson, C.
PUB. DATE
April 2004
SOURCE
Gut;Apr2004 Supplement 3, Vol. 53, pA16
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
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.
ACCESSION #
13218875

 

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