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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Enregistré dans:
Détails bibliographiques
Publié dans:Hum Genome Var
Auteurs principaux: Takeda, Norifumi, Morita, Hiroyuki, Fujita, Daishi, Inuzuka, Ryo, Taniguchi, Yuki, Nawata, Kan, Komuro, Issei
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2015
Sujets:
Data Report
Accès en ligne: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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