Taking the next step forward - Diagnosing inherited infantile cholestatic disorders with next generation sequencing

Molecular and Cellular Probes

Volumn 29, Issue 5, 2015, Pages 291-298

  Herbst, S M ^a   Schirmer, S ^a   Posovszky, C ^c   Jochum, F ^d   Rodl T ^a   Schroeder, J A ^a   Barth, T F ^e   Hehr, U ^a   Melter, M ^b   Vermehren, J ^b  

^a UNIVERSITY OF REGENSBURG   (Germany)

^b UNIVERSITY HOSPITAL REGENSBURG   (Germany)

^c UNIVERSITY HOSPITAL ULM   (Germany)

^d Evangelisches Waldkrankenhaus Spandau   (Germany)

^e UNIVERSITY OF ULM   (Germany)

Author keywords

Hepatic fibrosis; Infantile cholestasis; Massive parallel sequencing; Next generation sequencing; Niemann Pick syndrome; PFIC; PKHD1

Indexed keywords

BILE SALT EXPORT PUMP; FIBROCYSTIN; PROTEIN; PROTEIN NPC1; UNCLASSIFIED DRUG; ABC TRANSPORTER; ABCB11 PROTEIN, HUMAN; CARRIER PROTEIN; CELL SURFACE RECEPTOR; MEMBRANE PROTEIN; NPC1 PROTEIN, HUMAN; PKHD1 PROTEIN, HUMAN;

ARTICLE; ATYPICAL PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHOLESTASIS; CLINICAL FEATURE; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; DIFFERENTIAL DIAGNOSIS; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC VARIABILITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFANT; INFANTILE CHOLESTASIS; KIDNEY POLYCYSTIC DISEASE; MALE; NEXT GENERATION SEQUENCING; NIEMANN PICK DISEASE; NIEMANN PICK SYNDROME TYPE C1; PHENOTYPE; PRIORITY JOURNAL; PROSPECTIVE STUDY; SENSITIVITY AND SPECIFICITY; TRANSMISSION ELECTRON MICROSCOPY; DNA SEQUENCE; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; HIGH THROUGHPUT SEQUENCING; MUTATION; PROCEDURES; RARE DISEASES;

ATP-BINDING CASSETTE TRANSPORTERS; CARRIER PROTEINS; CHOLESTASIS; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; MEMBRANE GLYCOPROTEINS; MUTATION; PHENOTYPE; PROSPECTIVE STUDIES; RARE DISEASES; RECEPTORS, CELL SURFACE; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS, DNA;

EID: 84946494170     PISSN: 08908508     EISSN: 10961194     Source Type: Journal    
DOI: 10.1016/j.mcp.2015.03.001     Document Type: Article

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