A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts

Human Molecular Genetics

Volumn 17, Issue 10, 2008, Pages 1397-1405

  Reamon Buettner, Stella Marie ^a   Ciribilli, Yari ^b   Inga, Alberto ^b   Borlak, Juergen ^a  

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

^b UNIVERSITY OF GENOA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

BASIC HELIX LOOP HELIX TRANSCRIPTION FACTOR; BASIC HELIX LOOP HELIX TRANSCRIPTION FACTOR HEART AND NEURAL CREST DERIVATIVES EXPRESSED 1;

AORTA DISEASE; AORTA VALVE DISEASE; ARTICLE; BINDING SITE; CLINICAL ARTICLE; CONGENITAL HEART DISEASE; DNA BINDING; FETUS WASTAGE; FRAMESHIFT MUTATION; GENE CONSTRUCT; GENE MUTATION; GENE SEQUENCE; GENETIC TRANSCRIPTION; HEART DEVELOPMENT; HEART DISEASE; HEART HYPOPLASIA; HEART LEFT VENTRICLE OUTFLOW TRACT; HUMAN; HUMAN TISSUE; HYPOPLASTIC LEFT HEART SYNDROME; INFANCY; INFANT; LETHALITY; MITRAL VALVE DISEASE; NEWBORN; PREDICTION; PRIORITY JOURNAL; PROTEIN FUNCTION; REPORTER GENE;

BASE SEQUENCE; BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; FRAMESHIFT MUTATION; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENES, REPORTER; HEART; HUMANS; HYPOPLASTIC LEFT HEART SYNDROME; INFANT; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; MOLECULAR SEQUENCE DATA; PROTEIN STRUCTURE, TERTIARY; SEQUENCE ANALYSIS, DNA; TRANS-ACTIVATION (GENETICS);

MUS;

EID: 43049105408     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddn027     Document Type: Article

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