Novel mutations in the TBX5 gene in patients with Holt-oram Syndrome

Genetics and Molecular Biology

Volumn 33, Issue 2, 2010, Pages 232-236

  Porto, Marianna P R ^a   Vergani, Naja ^a   Carvalho, Antonio Carlos C ^a   Cernach, Mirlene C S P ^a   Brunoni, Decio ^a   Perez, Ana Beatriz A ^a  

^a FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Congenital heart disease; GATA gene; Holt oram syndrome; Mutation analysis; NKX2.5 gene; TBX5 gene

Indexed keywords

TRANSCRIPTION FACTOR GATA 4; TRANSCRIPTION FACTOR NKX2.5; TRANSCRIPTION FACTOR TBX5;

ARTICLE; BONE MALFORMATION; CONTROLLED STUDY; ELECTROCARDIOGRAPHY; FEMALE; GENE EXPRESSION REGULATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; HOLT ORAM SYNDROME; HUMAN; HYDROPHOBICITY; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PROTEIN PROTEIN INTERACTION; UPREGULATION;

EID: 77954352420     PISSN: 14154757     EISSN: 16784685     Source Type: Journal    
DOI: 10.1590/S1415-47572010005000051     Document Type: Article

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