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- W2464455791 abstract "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 TAAD/PDA have not been elucidated. Here we report the first familial case of TAAD with only a MYH11 L1264P mutation, in which PDA was not observed, indicating that L1264P, not R1275L, is responsible for TAAD formation." @default.
- W2464455791 created "2016-07-22" @default.
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- W2464455791 date "2015-08-06" @default.
- W2464455791 modified "2023-10-10" @default.
- W2464455791 title "A deleterious MYH11 mutation causing familial thoracic aortic dissection" @default.
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- W2464455791 doi "https://doi.org/10.1038/hgv.2015.28" @default.
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