Analysis of gene mutations in children with cholestasis of undefined etiology

Journal of Pediatric Gastroenterology and Nutrition

Volumn 51, Issue 4, 2010, Pages 488-493

  Matte, Ursula ^a   Mourya, Reena ^b   Miethke, Alexander ^b   Liu, Cong ^b   Kauffmann, Gregory ^b   Moyer, Katie ^b   Zhang, Kejian ^b   Bezerra, Jorge A ^b  

^a HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^b CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

Bile duct; Jaundice; Liver; Mutation; Progressive familial intrahepatic cholestasis

Indexed keywords

AMINO ACID; BIOCHEMICAL MARKER; DNA; JAGGED1; RAUWOLFIA ALKALOID;

ABCB11 GENE; ABCB4 GENE; ADOLESCENT; ADULT; ALLELE; AMINO ACID COMPOSITION; ARTICLE; ATP8B1 GENE; CHILD; CHOLESTASIS; CONTROLLED STUDY; GENE; GENE DELETION; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HIGH THROUGHPUT SCREENING; HISTOPATHOLOGY; HUMAN; IDIOPATHIC DISEASE; INFANT; MAJOR CLINICAL STUDY; NONSENSE MUTATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS;

ADENOSINE TRIPHOSPHATASES; ADOLESCENT; ALPHA 1-ANTITRYPSIN; ATP-BINDING CASSETTE TRANSPORTERS; CALCIUM-BINDING PROTEINS; CHILD; CHILD, PRESCHOOL; CHOLESTASIS; DIAGNOSIS, DIFFERENTIAL; GENETIC PREDISPOSITION TO DISEASE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MEMBRANE PROTEINS; MUTATION; P-GLYCOPROTEINS;

EID: 78449248396     PISSN: 02772116     EISSN: None     Source Type: Journal    
DOI: 10.1097/MPG.0b013e3181dffe8f     Document Type: Article

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