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A deleterious MYH11 mutation causing familial thoracic aortic dissection
The L1264P and R1275L heterozygous mutations of the myosin heavy chain 11 (MYH11) gene, which are on the same allele, have been reported to cause thoracic aortic aneurysms and/or dissections (TAAD) complicated with patent ductus arteriosus (PDA); however, their contributions to the pathogenesis of T...
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| Udgivet i: | Hum Genome Var |
|---|---|
| Main Authors: | , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Nature Publishing Group
2015
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4785537/ https://ncbi.nlm.nih.gov/pubmed/27081537 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2015.28 |
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