NKX2-5: An update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD)

Human Mutation

Volumn 31, Issue 11, 2010, Pages 1185-1194

  Reamon Buettner, Stella Marie ^a   Borlak, Juergen ^a  

^a FRAUNHOFER INSTITUTE FOR TOXICOLOGY AND EXPERIMENTAL MEDICINE   (Germany)

Author keywords

Cardiac malformations; Congenital heart disease; Heart development; NKX2 5; Transcription factors

Indexed keywords

TRANSCRIPTION FACTOR NKX2.5;

BIOINFORMATICS; CONGENITAL HEART DISEASE; CONGENITAL HEART MALFORMATION; FAMILY HISTORY; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GERM LINE; HEART DEVELOPMENT; HETEROZYGOTE; HUMAN; PATHOGENESIS; PRIORITY JOURNAL; REVIEW;

AMINO ACID SEQUENCE; CONSERVED SEQUENCE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GERM-LINE MUTATION; HEART DEFECTS, CONGENITAL; HOMEODOMAIN PROTEINS; HUMANS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; PROTEIN CONFORMATION; PROTEIN STRUCTURE, SECONDARY; TRANSCRIPTION FACTORS;

MAMMALIA;

EID: 78049442656     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21345     Document Type: Review

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