A rare BSEP mutation associated with a mild form of progressive familial intrahepatic cholestasis type 2

Annals of Hepatology

Volumn 16, Issue 3, 2017, Pages 465-468

  Waisbourd Zinman, Orith ^a,b   Surrey, Lea F ^a   Schwartz, Anna E ^a   Russo, Pierre A ^a,c   Wen, Jessica ^a,c  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b TEL AVIV UNIVERSITY   (Israel)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

ABCB11; BSEP; Cholestasis; PFIC2; Progressive familial intrahepatic cholestasis

Indexed keywords

ARGININE; BILE SALT EXPORT PROTEIN; BILIRUBIN; CARRIER PROTEIN; COLESTYRAMINE; CYSTEINE; GAMMA GLUTAMYLTRANSFERASE; HISTIDINE; HYDROXYZINE; TYROSINE; UNCLASSIFIED DRUG; VITAMIN; VITAMIN K GROUP; ABC TRANSPORTER; ABCB11 PROTEIN, HUMAN;

ABCB11 GENE; ACUTE LIVER FAILURE; ARTICLE; ASYMPTOMATIC DISEASE; BLOOD CLOTTING DISORDER; CASE REPORT; CHILD; CHOLESTASIS; DISEASE SEVERITY; ECHOGRAPHY; FAMILIAL DISEASE; FEMALE; GENETIC ASSOCIATION; GENETIC SCREENING; HEPATOMEGALY; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANCY; INTRAHEPATIC CHOLESTASIS; JAUNDICE; LIVER BIOPSY; MALE; MISSENSE MUTATION; PRESCHOOL CHILD; PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 2; PRURITUS; SCHOOL CHILD; SIBLING; VITAMIN DEFICIENCY; VITAMIN SUPPLEMENTATION; CHOLESTASIS, INTRAHEPATIC; DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION; GENETICS; HEREDITY; IMMUNOHISTOCHEMISTRY; LARGE CORE NEEDLE BIOPSY; PEDIGREE; PHENOTYPE; SEVERITY OF ILLNESS INDEX; TRANSMISSION ELECTRON MICROSCOPY;

ATP-BINDING CASSETTE TRANSPORTERS; BIOPSY, LARGE-CORE NEEDLE; CHILD; CHILD, PRESCHOOL; CHOLESTASIS, INTRAHEPATIC; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEREDITY; HETEROZYGOTE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; SEVERITY OF ILLNESS INDEX;

EID: 85018388169     PISSN: 16652681     EISSN: None     Source Type: Journal    
DOI: 10.5604/16652681.1235494     Document Type: Article

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