Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes in familial cases of bicuspid aortic valve

BMC Medical Genetics

Volumn 14, Issue 1, 2013, Pages

  Foffa, Ilenia ^a   Ait Alì, Lamia ^a   Panesi, Paola ^a   Mariani, Massimiliano ^a   Festa, Pierluigi ^a   Botto, Nicoletta ^a   Vecoli, Cecilia ^a   Andreassi, Maria Grazia ^a  

^a CNR   (Italy)

Author keywords

Bicuspid aortic valve; Direct gene sequencing; Genes

Indexed keywords

NOTCH1 RECEPTOR; TRANSCRIPTION FACTOR GATA 5; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 1; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ADOLESCENT; ADULT; AGED; ARTICLE; BICUSPID AORTIC VALVE; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; EXON; FAMILIAL DISEASE; FEMALE; GENE SEGREGATION; GENE SEQUENCE; GENETIC SCREENING; HUMAN; INTRON; ITALY; MALE; MISSENSE MUTATION; NONSENSE MUTATION;

3' UNTRANSLATED REGIONS; 5' UNTRANSLATED REGIONS; ADOLESCENT; ADULT; AGED; AORTIC VALVE; CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GATA5 TRANSCRIPTION FACTOR; GENETIC VARIATION; GENETICS, POPULATION; GERM-LINE MUTATION; HEART VALVE DISEASES; HUMANS; ITALY; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PROTEIN-SERINE-THREONINE KINASES; RECEPTOR, NOTCH1; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; SIGNAL TRANSDUCTION; YOUNG ADULT;

EID: 84875945499     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-14-44     Document Type: Article

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