Paternal isodisomy of chromosome 2 in a child with bile salt export pump deficiency

Hepatology Research

Volumn 42, Issue 3, 2012, Pages 327-331

  Giovannoni, Isabella ^a   Terracciano, Alessandra ^a   Gennari, Fabrizio ^a   David, Ezio ^b   Francalanci, Paola ^a   Santorelli, Filippo M ^c  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b MOLINETTE HOSPITAL   (Italy)

^c DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

Author keywords

Chromosome 2; Isodisomy; Progressive familial intrahepatic cholestasis

Indexed keywords

ASPARTATE AMINOTRANSFERASE; BILE SALT; BILIRUBIN; TACROLIMUS;

ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; BILE SALT EXPORT PUMP DEFICIENCY; BILIRUBIN BLOOD LEVEL; CASE REPORT; CHILD; CHROMOSOME 2; CHROMOSOME MOSAICISM; GENE DELETION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; HEPATOSPLENOMEGALY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOSUPPRESSIVE TREATMENT; INTRAHEPATIC CHOLESTASIS; JAUNDICE; KARYOTYPE; LIVER BIOPSY; LIVER TRANSPLANTATION; MALE; OUTCOME ASSESSMENT; PRESCHOOL CHILD; PRIORITY JOURNAL; PRURITUS; UNIPARENTAL DISOMY;

EID: 84857544132     PISSN: 13866346     EISSN: 1872034X     Source Type: Journal    
DOI: 10.1111/j.1872-034X.2011.00925.x     Document Type: Article

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