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Liver transcript analysis reveals aberrant splicing due to silent and intronic variations in the ABCB11 gene

Anne Davit-Spraul1, Christophe Oliveira1, Emmanuel Gonzales2

  • 1Biochemistry laboratory, Hôpital Bicêtre, Assistance Publique - Hôpitaux de Paris, Université Paris-Sud 11, Le Kremlin-Bicêtre, France.

Molecular Genetics and Metabolism
|August 3, 2014
PubMed
Abstract

Keywords:
ABCB11 geneAberrant splicingBSEPProgressive familial intrahepatic cholestasis type 2Synonymous mutation

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