The histidin-loop is essential for transport activity of human MDR3. A novel mutation of MDR3 in a patient with progressive familial intrahepatic cholestasis type 3

Gene

Volumn 506, Issue 1, 2012, Pages 141-145

  Dzagania, Tamar ^a   Engelmann, Guido ^b   Häussinger, Dieter ^c   Schmitt, Lutz ^c   Flechtenmacher, Christa ^b   Rtskhiladze, Irakli ^a   Kubitz, Ralf ^c  

^a Medical Center 'Mrcheveli'   (Georgia)

^b UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^c HEINRICH HEINE UNIVERSITY   (Germany)

Author keywords

PFIC 3 Cholestasis Childhood; Childhood; Cholestasis; PFIC 3

Indexed keywords

ADENOSINE TRIPHOSPHATE; ALANINE AMINOTRANSFERASE; ALKALINE PHOSPHATASE; AMINO ACID; BILE ACID; BILIRUBIN; GAMMA GLUTAMYLTRANSFERASE; HEMOGLOBIN; HISTIDINE; MULTIDRUG RESISTANCE PROTEIN 3; TYROSINE; URSODEOXYCHOLIC ACID; MULTIDRUG RESISTANCE PROTEIN;

ALANINE AMINOTRANSFERASE BLOOD LEVEL; ALKALINE PHOSPHATASE BLOOD LEVEL; ANEMIA; APPLICATION SITE EXCORIATION; ARTICLE; BILE ACID BLOOD LEVEL; BILIRUBIN BLOOD LEVEL; BLOOD CELL COUNT; CASE REPORT; CHILD; GAMMA GLUTAMYL TRANSFERASE BLOOD LEVEL; GENE MUTATION; GENETIC ANALYSIS; GROWTH DISORDER; HEMOGLOBIN BLOOD LEVEL; HUMAN; IMMUNOFLUORESCENCE; INTRAHEPATIC CHOLESTASIS; JAUNDICE; LIVER BIOPSY; MALE; MEAN CORPUSCULAR HEMOGLOBIN; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 3; PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLSTASIS TYPE 3; PROTEIN EXPRESSION; PROTEIN HYDROLYSIS; PRURITUS; RETICULOCYTE COUNT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BINDING SITE; CHEMICAL STRUCTURE; CHEMISTRY; CONSANGUINITY; GENETICS; HOMOZYGOTE; INTRAHEPATIC BILE DUCT; LIVER; METABOLISM; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; BILE DUCTS, INTRAHEPATIC; BINDING SITES; CHILD, PRESCHOOL; CHOLESTASIS, INTRAHEPATIC; CONSANGUINITY; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; HISTIDINE; HOMOZYGOTE; HUMANS; LIVER; MALE; MODELS, MOLECULAR; MUTATION, MISSENSE; P-GLYCOPROTEINS;

EID: 84864772620     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.06.029     Document Type: Article

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