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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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Bibliografiske detaljer
Udgivet i:Hum Genome Var
Main Authors: Takeda, Norifumi, Morita, Hiroyuki, Fujita, Daishi, Inuzuka, Ryo, Taniguchi, Yuki, Nawata, Kan, Komuro, Issei
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2015
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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