First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis

European Journal of Human Genetics

Volumn 20, Issue 3, 2012, Pages 277-282

  Pasmant, Eric ^a,b   Goussard, Philippe ^a   Baranes, Laetitia ^a   Laurendeau, Ingrid ^b   Quentin, Samuel ^c   Ponsot, Philippe ^a   Consigny, Yann ^d   Farges, Olivier ^a   Condat, Bertrand ^e   Vidaud, Dominique ^a,b   Vidaud, Michel ^a,b   Chen, Jian Min ^f   Parfait, Béatrice ^a,b  

^a BEAUJON HOSPITAL   (France)

^b INSERM   (France)

^c UNIVERSITÉ PARIS DIDEROT   (France)

^d Cabinet Medical   (France)

^e Hopital Saint Camille   (France)

^f ETABLISSEMENT FRANÇAIS DU SANG   (France)

Author keywords

ABCB4; biliary disease; deletion; LPAC; MDR3

Indexed keywords

MULTIDRUG RESISTANCE PROTEIN 4;

ADULT; ARTICLE; CHOLELITHIASIS; CHOLESTASIS; CONTROLLED STUDY; DNA SEQUENCE; FAMILIAL DISEASE; FEMALE; GENE DELETION; GENE DOSAGE; GENOTYPE; HETEROZYGOSITY; HUMAN; INTRAHEPATIC CHOLESTASIS; LOSS OF FUNCTION MUTATION; LOW PHOSPHOLIPID ASSOCIATED CHOLELITHIASIS; MALE; NUCLEOTIDE SEQUENCE; ORAL CONTRACEPTIVE INDUCED CHOLESTASIS; PRIORITY JOURNAL;

ADULT; BASE SEQUENCE; CHOLELITHIASIS; CHOLESTASIS, INTRAHEPATIC; CHROMOSOMES, HUMAN, PAIR 7; COMPARATIVE GENOMIC HYBRIDIZATION; CONTRACEPTIVES, ORAL; FEMALE; GALLBLADDER DISEASES; GENE DELETION; HUMANS; MALE; MIDDLE AGED; P-GLYCOPROTEINS; PEDIGREE; PREGNANCY COMPLICATIONS; SYNDROME; YOUNG ADULT;

EID: 84857189371     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.186     Document Type: Article

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