Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome

Circulation

Volumn 106, Issue 20, 2002, Pages 2567-2574

  McElhinney, Doff B ^a   Krantz, Ian D ^a   Bason, Lynn ^a   Piccoli, David A ^a   Emerick, Karan M ^a   Spinner, Nancy B ^a   Goldmuntz, Elizabeth ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

Cardiovascular disease; Genetics; Tetralogy of Fallot

Indexed keywords

ALAGILLE SYNDROME; ARTERY OCCLUSION; ARTICLE; CARDIOVASCULAR MALFORMATION; CARDIOVASCULAR RISK; CLINICAL TRIAL; DIAGNOSTIC IMAGING; ECHOCARDIOGRAPHY; FALLOT TETRALOGY; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HEART MURMUR; HUMAN; LUNG ATRESIA; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PULMONARY ARTERY STENOSIS; PULMONARY VALVE STENOSIS;

ALAGILLE SYNDROME; CALCIUM-BINDING PROTEINS; CHILD; FOLLOW-UP STUDIES; GENOTYPE; HEART DEFECTS, CONGENITAL; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MEMBRANE PROTEINS; MUTATION; PHENOTYPE; PROTEINS; PULMONARY ARTERY; TETRALOGY OF FALLOT;

EID: 0037069322     PISSN: 00097322     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.CIR.0000037221.45902.69     Document Type: Article

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