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

BACKGROUND: The purpose of our study was to investigate the potential contribution of germline mutations in NOTCH1, GATA5 and TGFBR1 and TGFBR2 genes in a cohort of Italian patients with familial Bicuspid Aortic Valve (BAV). METHODS: All the coding exons including adjacent intronic as well as 5(′) a...

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Autori principali: Foffa, Ilenia, Ait Alì, Lamia, Panesi, Paola, Mariani, Massimiliano, Festa, Pierluigi, Botto, Nicoletta, Vecoli, Cecilia, Andreassi, Maria Grazia
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2013
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3637327/
https://ncbi.nlm.nih.gov/pubmed/23578328
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-14-44
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