Two novel mutations in African and Asian children with progressive familial intrahepatic cholestasis type 3

Digestive and Liver Disease

Volumn 43, Issue 7, 2011, Pages 567-570

  Giovannoni, Isabella ^a   Santorelli, Filippo Maria ^a   Candusso, Manila ^a   Di Rocco, Maja ^b   Bellacchio, Emanuele ^c   Callea, Francesco ^a   Francalanci, Paola ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b G GASLINI INSTITUTE   (Italy)

^c CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

Author keywords

ABCB4 gene mutations

Indexed keywords

CYTOKERATIN 7; MULTIDRUG RESISTANCE PROTEIN 3;

AFRICAN AMERICAN; ARTICLE; CASE REPORT; CHILD; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE; HETEROZYGOSITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; IMMUNOHISTOCHEMISTRY; INTRAHEPATIC CHOLESTASIS; LIVER BIOPSY; LIVER FIBROSIS; LIVER HISTOLOGY; MALE; POLYMERASE CHAIN REACTION; PREGNANCY; PRIORITY JOURNAL; PROTEIN EXPRESSION;

ATP-BINDING CASSETTE TRANSPORTERS; BIOPSY; CHILD; CHILD, PRESCHOOL; CHOLESTASIS, INTRAHEPATIC; DNA; FEMALE; GENOTYPE; HUMANS; IMMUNOHISTOCHEMISTRY; LIVER; MALE; MUTATION; PAKISTAN; POLYMERASE CHAIN REACTION; TUNISIA;

EID: 79957624084     PISSN: 15908658     EISSN: 18783562     Source Type: Journal    
DOI: 10.1016/j.dld.2011.03.004     Document Type: Article

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