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Two novel MYLK nonsense mutations causing thoracic aortic aneurysms/dissections in patients without apparent family history.

作者信息

Luyckx I, Proost D, Hendriks J M H, Saenen J, Van Craenenbroeck E M, Vermeulen T, Peeters N, Wuyts W, Rodrigus I, Verstraeten A, Van Laer L, Loeys B L

机构信息

Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.

Department of Thoracic and Vascular Surgery, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.

出版信息

Clin Genet. 2017 Oct;92(4):444-446. doi: 10.1111/cge.13000. Epub 2017 Apr 12.

DOI:10.1111/cge.13000
PMID:28401540
Abstract
摘要

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