Jagged1 (JAG1) mutations in patients with tetralogy of fallot or pulmonic stenosis

Human Mutation

Volumn 31, Issue 5, 2010, Pages 594-601

  Bauer, Robert C ^a   Laney, Ayanna O ^a   Smith, Rosemarie ^b   Gerfen, Jennifer ^a   Morrissette, Jennifer J D ^c   Woyciechowski, Stacy ^a   Garbarini, Jennifer ^a   Loomes, Kathleen M ^a   Krantz, Ian D ^a   Urban, Zsolt ^d   Gelb, Bruce D ^e   Goldmuntz, Elizabeth ^a   Spinner, Nancy B ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b MAINE MEDICAL CENTER   (United States)

^c ST CHRISTOPHER'S HOSPITAL FOR CHILDREN   (United States)

^d WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

AGS; Alagille syndrome; Heart; JAG1; Pulmonary stenosis; Tetralogy of fallot

Indexed keywords

JAGGED1; NOTCH RECEPTOR;

ALAGILLE SYNDROME; ARTICLE; CONTROLLED STUDY; FALLOT TETRALOGY; FRAMESHIFT MUTATION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GLYCOSYLATION; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PROTEIN PROCESSING; PULMONARY VALVE ATRESIA; PULMONARY VALVE STENOSIS; PULMONIC STENOSIS;

ALAGILLE SYNDROME; ANIMALS; CALCIUM-BINDING PROTEINS; DNA MUTATIONAL ANALYSIS; FEMALE; GLYCOSYLATION; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MEMBRANE PROTEINS; MICE; MUTATION; MUTATION, MISSENSE; NIH 3T3 CELLS; PEDIGREE; PROTEIN PROCESSING, POST-TRANSLATIONAL; PULMONARY VALVE STENOSIS; SIGNAL TRANSDUCTION; TETRALOGY OF FALLOT;

EID: 77951837630     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21231     Document Type: Article

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