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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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Hum Genome Var
Prif Awduron: Takeda, Norifumi, Morita, Hiroyuki, Fujita, Daishi, Inuzuka, Ryo, Taniguchi, Yuki, Nawata, Kan, Komuro, Issei
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group 2015
Pynciau:
Mynediad Ar-lein: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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