Article
Analysis of aberrant pre-messenger RNA splicing resulting from mutations in ATP8B1 and efficient in vitro rescue by adapted U1 small nuclear RNA.
Hepatology (Baltimore, Md.) - 1 Apr 2015
van der Woerd Wendy L, Mulder Johanna, Pagani Franco, Beuers Ulrich, Houwen Roderick H J, van de Graaf Stan F J
Abstract excerpt
UNLABELLED: ATP8B1 deficiency is a severe autosomal recessive liver disease resulting from mutations in the ATP8B1 gene characterized by a continuous phenotypical spectrum from intermittent (benign recurrent intrahepatic cholestasis; BRIC) to progressive familial intrahepatic cholestasis (PFIC). Current therapeutic options are insufficient, and elucidating the molecular consequences of mutations could lead to...
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