A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation. [electronic resource]
- Circulation research Jun 2008
- 1433-42 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1524-4571
10.1161/CIRCRESAHA.107.168294 doi
Abnormalities, Multiple Adolescent Adult Age of Onset Animals Atrial Fibrillation--diagnosis Binding, Competitive Cells, Cultured Child DNA--metabolism Electrocardiography Female Gene Expression Regulation Gene Transfer Techniques Genetic Linkage Genetic Testing Homeobox Protein Nkx-2.5 Homeodomain Proteins--metabolism Humans Male Mice Mutation Pedigree Phenotype Protein Transport--genetics Rats Syndrome T-Box Domain Proteins--chemistry Transcription Factors--metabolism Two-Hybrid System Techniques