MAT2A Mutations Predispose Individuals to Thoracic Aortic Aneurysms

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 seque...

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Pubblicato in:Am J Hum Genet
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2015
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Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4289682/
https://ncbi.nlm.nih.gov/pubmed/25557781
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.11.015
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