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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...

詳細記述

保存先:
書誌詳細
出版年:Hum Genome Var
主要な著者: Takeda, Norifumi, Morita, Hiroyuki, Fujita, Daishi, Inuzuka, Ryo, Taniguchi, Yuki, Nawata, Kan, Komuro, Issei
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group 2015
主題:
オンライン・アクセス: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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