MAT2A mutations predispose individuals to thoracic aortic aneurysms.

doi:10.1016/j.ajhg.2014.11.015

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Article

MAT2A mutations predispose individuals to thoracic aortic aneurysms.

American journal of human genetics - 8 Jan 2015

Guo Dong-chuan, Gong Limin, Regalado Ellen S, Santos-Cortez Regie L, Zhao Ren, Cai Bo, Veeraraghavan Sudha, Prakash Siddharth K, Johnson Ralph J, Muilenburg Ann, Willing Marcia, Jondeau Guillaume, Boileau Catherine, Pannu Hariyadarshi, Moran Rocio, Debacker Julie, Bamshad Michael J, Shendure Jay, Nickerson Deborah A, Leal Suzanne M, Raman C S, Swindell Eric C, Milewicz Dianna M

Abstract excerpt

Up to 20% of individuals who have thoracic aortic aneurysms or acute aortic dissections but who do not have syndromic features have a family history of thoracic aortic disease. Significant genetic heterogeneity is established for this familial condition. Whole-genome linkage analysis and exome sequencing of distant relatives from a large family with autosomal-dominant inheritance of thoracic aortic aneurysms...

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PMID: 25557781
DOI: 10.1016/j.ajhg.2014.11.015
PMCID: PMC4289682

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