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MAT2A mutations predispose individuals to thoracic aortic aneurysms.
Guo DC, Gong L, Regalado ES, Santos-Cortez RL, Zhao R, Cai B, Veeraraghavan S, Prakash SK, Johnson RJ, Muilenburg A, Willing M, Jondeau G, Boileau C, Pannu H, Moran R, Debacker J; GenTAC Investigators, National Heart, Lung, and Blood Institute Go Exome Sequencing Project; Montalcino Aortic Consortium; Bamshad MJ, Shendure J, Nickerson DA, Leal SM, Raman CS, Swindell EC, Milewicz DM. Guo DC, et al. Among authors: milewicz dm. Am J Hum Genet. 2015 Jan 8;96(1):170-7. doi: 10.1016/j.ajhg.2014.11.015. Epub 2014 Dec 31. Am J Hum Genet. 2015. PMID: 25557781 Free PMC article.
FBN1 exon 2 splicing error in a patient with Marfan syndrome.
Guo D, Tan FK, Cantu A, Plon SE, Milewicz DM. Guo D, et al. Among authors: milewicz dm. Am J Med Genet. 2001 Jun 15;101(2):130-4. doi: 10.1002/1096-8628(20010615)101:2<130::aid-ajmg1333>3.0.co;2-v. Am J Med Genet. 2001. PMID: 11391655
Genetic basis of thoracic aortic aneurysms and dissections.
Hasham SN, Guo DC, Milewicz DM. Hasham SN, et al. Among authors: milewicz dm. Curr Opin Cardiol. 2002 Nov;17(6):677-83. doi: 10.1097/00001573-200211000-00015. Curr Opin Cardiol. 2002. PMID: 12466712 Review.
343 results