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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...
Shranjeno v:
| izdano v: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
John Wiley and Sons Inc.
2019
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| Teme: | |
| Online dostop: | 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 |
| Oznake: |
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