Identification and functional analysis of CITED2 mutations in patients with congenital heart defects

Human Mutation

Volumn 26, Issue 6, 2005, Pages 575-582

  Sperling, Silke ^a   Grimm, Christina H ^a   Dunkel, Ilona ^a   Mebus, Siegrun ^b   Sperling, Hans Peter ^b   Ebner, Arno ^c   Galli, Raffaello ^a   Lehrach, Hans ^a   Fusch, Christoph ^c   Berger, Felix ^b   Hammer, Stefanie ^a  

^a MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^b DEUTSCHES HERZZENTRUM BERLIN   (Germany)

^c UNIVERSITY OF GREIFSWALD   (Germany)

Author keywords

Arterial malrotation; CHD; CITED2; Congenital heart defects; Septal defects

Indexed keywords

CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN; HYPOXIA INDUCIBLE FACTOR 1ALPHA; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR AP 2; TRANSCRIPTION FACTOR CITED2; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CITED2 GENE; COHORT ANALYSIS; CONGENITAL HEART DISEASE; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; GENE; GENE ACTIVATION; GENE DELETION; GENE FUNCTION; GENE INSERTION; GENE MUTATION; GENE REPRESSION; GENOTYPE; HEART SEPTUM DEFECT; HUMAN; HUMAN CELL; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

AMINO ACID SEQUENCE; CELL LINE; COHORT STUDIES; DNA-BINDING PROTEINS; GENE EXPRESSION REGULATION; GENE FREQUENCY; GENETIC SCREENING; HAPLOTYPES; HEART DEFECTS, CONGENITAL; HUMANS; HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; MUTATION; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RECOMBINANT FUSION PROTEINS; REPRESSOR PROTEINS; TRANS-ACTIVATORS; TRANSCRIPTION FACTOR AP-2;

EID: 28844459874     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20262     Document Type: Article

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