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Novel ELN mutation in a Japanese family with a severe form of supravalvular aortic stenosis

BACKGROUND: Supravalvular aortic stenosis (SVAS) is one of the congenital cardiovascular diseases characterized by stenosis of the aorta. The stenotic lesions occur anywhere above the aortic valve in the aortic tree as well as pulmonary arteries and eventually leads to circulatory failure. The disea...

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Dettagli Bibliografici
Pubblicato in:Mol Genet Genomic Med
Autori principali: Sugiyama, Kaori, Horigome, Hitoshi, Lin, Lisheng, Murakami, Takashi, Shiono, Junko, Yamashiro, Yoshito, Matsuura, Hiroyuki, Yoda, Hitoshi, Yanagisawa, Hiromi
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2019
Soggetti:
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6825854/
https://ncbi.nlm.nih.gov/pubmed/31560829
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.986
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