Congenital heart disease caused by mutations in the transcription factor NKX2-5

Science

Volumn 281, Issue 5373, 1998, Pages 108-111

  Schott, Jean Jacques ^a   Benson, D Woodrow ^b,g   Basson, Craig T ^b,h   Pease, William ^c   Silberbach, G Michael ^d   Moak, Jeffrey P ^e   Maron, Barry J ^f   Seidman, Christine E ^b   Seidman, J G ^a  

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c Harrisburg Hospital   (United States)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^e CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^f MINNEAPOLIS HEART INSTITUTE FOUNDATION   (United States)

^g MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^h Department of Obstetrics Gynecology   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; TRANSCRIPTION FACTOR;

ARTICLE; ATRIOVENTRICULAR BLOCK; CHROMOSOME 5Q; CHROMOSOME MAP; CLINICAL ARTICLE; CONGENITAL HEART DISEASE; ELECTROCARDIOGRAM; FEMALE; GENE LOCUS; GENE MUTATION; HEART ATRIOVENTRICULAR NODE; HEART ATRIUM SEPTUM DEFECT; HEART DEVELOPMENT; HEART ELECTROPHYSIOLOGY; HOMEOBOX; HUMAN; MALE; PRIORITY JOURNAL; PROTEIN DNA BINDING;

AMINO ACID SEQUENCE; ANIMALS; ATRIOVENTRICULAR NODE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 5; CODON; FEMALE; GENES, DOMINANT; HEART BLOCK; HEART SEPTAL DEFECTS, ATRIAL; HOMEODOMAIN PROTEINS; HUMANS; LINKAGE (GENETICS); MALE; MICE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEIN BIOSYNTHESIS; TRANSCRIPTION FACTORS; XENOPUS PROTEINS;

EID: 0032479573     PISSN: 00368075     EISSN: None     Source Type: Journal    
DOI: 10.1126/science.281.5373.108     Document Type: Article

References (24)

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23. Single-letter abbreviations for the amino acid residues are as follows: A, Ala; C, Cys; D, Asp; E, Glu; F, Phe; G, Gly; H, His; I, Ile; K, Lys; L, Leu; M, Met; N, Asn; P, Pro; Q, Gln; R, Arg; S, Ser; T, Thr; V, Val; W, Trp; and Y, Tyr.
24. We thank B. McDonough and V. Friedenberg for help in patient studies and M. Miri and J. Soults for technical assistance. Supported by grants from the Fondation pour la Recherche Medicate (France), the Philippe Fondation (France), NIH, and the Howard Hughes Medical Institute.