A TBX5 3′UTR variant increases the risk of congenital heart disease in the Han Chinese population
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cell Biology,Genetics,Molecular Biology,Biochemistry
Link
http://www.nature.com/articles/celldisc201726.pdf
Reference56 articles.
1. Bruneau BG . The developmental genetics of congenital heart disease. Nature 2008; 451: 943–948.
2. Basson CT, Bachinsky DR, Lin RC et al. Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. Nat Genet 1997; 15: 30–35.
3. Ching YH, Ghosh TK, Cross SJ et al. Mutation in myosin heavy chain 6 causes atrial septal defect. Nat Genet 2005; 37: 423–428.
4. Kirk EP, Sunde M, Costa MW et al. Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy. Am J Hum Genet 2007; 81: 280–291.
5. Gutierrez-Roelens I, Sluysmans T, Gewillig M, Devriendt K, Vikkula M . Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 gene. Hum Mutation 2002; 20: 75–76.
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