Article

A mutation in the <i>LMOD1</i> actin-binding domain segregating with disease in a large British family with thoracic aortic aneurysms and dissections

2017-07-14

Abstract excerpt

We describe a mutation in LMOD1 , which predisposes individuals to thoracic aortic aneurysms and dissections in a large multi-generation British family. Exome variant profiles for the proband and two distantly related affected relatives were generated and a rare protein-altering, heterozygous variant was identified, present in all the exome-sequenced affected individuals. The allele c.1784T>C, p.(V595A) in LMOD1...

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Literature Corpus work: 5a941d5d-6d34-5522-b172-395f4b9b3f5f
DOI: 10.1101/153452

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