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

โœ Scribed by Pepe, Guglielmina; Nistri, Stefano; Giusti, Betti; Sticchi, Elena; Attanasio, Monica; Porciani, Cristina; Abbate, Rosanna; Bonow, Robert O; Yacoub, Magdi; Gensini, Gian


Book ID
125398558
Publisher
BioMed Central
Year
2014
Tongue
English
Weight
519 KB
Volume
15
Category
Article
ISSN
1471-2350

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Mutation screening of all 65 exons of th
โœ Caroline Hayward; Mary E. Porteous; David J. H. Brock ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 261 KB ๐Ÿ‘ 2 views

Mutations in the fibrillin-1 gene on chromosome 15q21.1 have been found to cause Marfan syndrome, a dominantly inherited disorder characterised by clinically variable skeletal, ocular, and cardiovascular abnormalities. In this study we screened all 65 exons of the fibrillin-1 gene in 20 Marfan syndr