Identification of fibrillin 1 gene mutations in patients with bicuspid aortic valve (BAV) without Marfan syndrome

BMC Medical Genetics

Volumn 15, Issue 1, 2014, Pages

  Pepe, Guglielmina ^a,b   Nistri, Stefano ^a,c   Giusti, Betti ^a,b   Sticchi, Elena ^a,b   Attanasio, Monica ^a,b   Porciani, Cristina ^a,b   Abbate, Rosanna ^a,b   Bonow, Robert O ^d   Yacoub, Magdi ^e   Gensini, Gian F ^a,b,f  

^a UNIVERSITY OF FLORENCE   (Italy)

^b CAREGGI UNIVERSITY HOSPITAL   (Italy)

^c CMSR Veneto Medica   (Italy)

^d NORTHWESTERN UNIVERSITY   (United States)

^e IMPERIAL COLLEGE LONDON   (United Kingdom)

^f IRCCS FONDAZIONE DON CARLO GNOCCHI   (Italy)

Author keywords

Aneurysm; Aortic disease; Bicuspid aortic valve; Fibrillin 1; Marfan syndrome

Indexed keywords

DNA; FIBRILLIN 1;

ADULT; AORTA ANEURYSM; AORTA VALVE REGURGITATION; ARTICLE; BICUSPID AORTIC VALVE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA FLANKING REGION; DNA SEQUENCE; DOPPLER ECHOCARDIOGRAPHY; EXON; FEMALE; FIBRILLIN 1 GENE; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; INTRON; MALE; MARFAN SYNDROME; PHENOTYPE; YOUNG ADULT;

ADULT; ANEURYSM, DISSECTING; AORTA; AORTIC ANEURYSM; AORTIC VALVE; BASE SEQUENCE; CASE-CONTROL STUDIES; DILATATION, PATHOLOGIC; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HEART VALVE DISEASES; HUMANS; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION, MISSENSE; YOUNG ADULT;

EID: 84896726502     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-15-23     Document Type: Article

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