Jagged1 mutations in patients ascertained with isolated congenital heart defects

American Journal of Medical Genetics

Volumn 84, Issue 1, 1999, Pages 56-60

  Krantz, Ian D ^a   Smith, Rosemarie ^b   Colliton, Ray P ^b   Tinkel, Hilary ^b   Zackai, Elaine H ^b   Piccoli, David A ^a   Goldmuntz, Elizabeth ^a   Spinner, Nancy B ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b NONE

Author keywords

Alagille syndrome; Congenital heart disease; Jagged1; Pulmonic stenosis; Tetralogy of Fallot

Indexed keywords

DNA; LIVER ENZYME;

ALAGILLE SYNDROME; ARTICLE; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CONGENITAL HEART DISEASE; CONTROLLED STUDY; FALLOT TETRALOGY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE MUTATION; HEART CATHETERIZATION; HUMAN; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PULMONARY VALVE STENOSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; THORAX RADIOGRAPHY;

ALAGILLE SYNDROME; CALCIUM-BINDING PROTEINS; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 20; DNA MUTATIONAL ANALYSIS; FACIES; FEMALE; GENE DELETION; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; KARYOTYPING; MALE; MEMBRANE PROTEINS; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEINS; TETRALOGY OF FALLOT;

EID: 0033531963     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990507)84:1<56::AID-AJMG11>3.0.CO;2-W     Document Type: Article

References (10)

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