Functional analysis of ABCB4 mutations relates clinical outcomes of progressive familial intrahepatic cholestasis type 3 to the degree of MDR3 floppase activity

Gut

Volumn 64, Issue 1, 2015, Pages 147-155

  Gordo Gilart, Raquel ^a   Andueza, Sara ^a   Hierro, Loreto ^a,b   Martínez Fernández, Pilar ^a,c   D'Agostino, Daniel ^d   Jara, Paloma ^a,b   Alvarez, Luis ^a  

^a HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^b HOSPITAL INFANTIL LA PAZ   (Spain)

^c HOSPITAL UNIVERSITARIO LA PAZ IDIPAZ   (Spain)

^d HOSPITAL ITALIANO DE BUENOS AIRES   (Argentina)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; MULTIDRUG RESISTANCE PROTEIN 3; PHOSPHATIDYLCHOLINE; URSODEOXYCHOLIC ACID; MULTIDRUG RESISTANCE PROTEIN;

ABCB4 GENE; ADOLESCENT; ANIMAL CELL; ARTICLE; CELLULAR DISTRIBUTION; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; ENDOPLASMIC RETICULUM; ENZYME ACTIVITY; EXON; FEMALE; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; IN VITRO STUDY; INTRAHEPATIC CHOLESTASIS; INTRON; LIPID TRANSPORT; LIVER TRANSPLANTATION; MALE; MISSENSE MUTATION; NONHUMAN; NONSENSE MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PROGNOSIS; PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 3; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; SCHOOL CHILD; SEQUENCE ANALYSIS; SITE DIRECTED MUTAGENESIS; SPLICING DEFECT; TREATMENT OUTCOME; CHOLESTASIS, INTRAHEPATIC; DEFICIENCY; ENZYMOLOGY; GENETICS; INFANT; PHYSIOLOGY;

CHILD; CHOLESTASIS, INTRAHEPATIC; FEMALE; HUMANS; INFANT; MALE; MUTATION, MISSENSE; P-GLYCOPROTEINS; TREATMENT OUTCOME; URSODEOXYCHOLIC ACID;

EID: 84919720669     PISSN: 00175749     EISSN: 14683288     Source Type: Journal    
DOI: 10.1136/gutjnl-2014-306896     Document Type: Article

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