DETECTION OF A NEW HEPATIC SYNDROME AND ITS APPLICATIONS.

摘要

Procedure for detecting a liver syndrome that associates (i) an intra-hepatic cholestasis, (ii) a biliary cholesterol microlithiasis and (iii) at least one mutation of the MDR3 gene, characterized in that it comprises at least the detection, from a sample of nucleic acid extracted from peripheral blood mononucleated cells, of at least one heterozygous mutation of the MDR3 gene and / or of a homozygous mutation that does not suppress the expression of the protein expressed by said gene, with phosphatidylcholine transporter activity, in adult subjects that associate a biliary microlithiasis of cholesterol and an intra-hepatic cholestasis.