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A deleterious MYH11 mutation causing familial thoracic aortic dissection

6 Aug 2015

Abstract excerpt

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,...

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Identifiers

PMID: 27081537
DOI: 10.1038/hgv.2015.28

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