Invention Grant
- Patent Title: Screening of a novel hepatic syndrome and its uses
- Patent Title (中): 筛选新型肝综合征及其用途
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Application No.: US11878420Application Date: 2007-07-24
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Publication No.: US07888022B2Publication Date: 2011-02-15
- Inventor: Raoul Poupon , Brigitte Hermelin , Olivier Rosmorduc
- Applicant: Raoul Poupon , Brigitte Hermelin , Olivier Rosmorduc
- Applicant Address: FR Paris
- Assignee: Assistance Publique-Hopitaux de Paris
- Current Assignee: Assistance Publique-Hopitaux de Paris
- Current Assignee Address: FR Paris
- Agency: Morgan, Lewis & Bockius LLP
- Priority: FR0010428 20000808
- Main IPC: C12Q1/68
- IPC: C12Q1/68 ; C12P19/34 ; C07H21/02 ; C07H21/04

Abstract:
The invention concerns methods of screening for a hepatic syndrome occurring in the young adult and associating cholesterol biliary microlithiasis, intrahepatic cholestasis and several mutations of the MDR3 gene. The invention is also directed to methods for the treatment of said syndrome. The hepatic syndrome screening methods comprise detecting, from a nucleic acid sample extracted from peripheral blood mononucleate cells, heterozygous mutations of the MDR3 gene and/or homozygous mutations of the MDR3 gene that do not eliminate the expression of the protein expressed by the MDR3 gene, which has phosphatidylcholine carrier activity, in adult subjects associating cholesterol biliary microlithiasis and intrahepatic cholestasis.
Public/Granted literature
- US20080095858A1 Screening of a novel hepatic syndrome and its uses Public/Granted day:2008-04-24
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