A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation. [electronic resource]
Producer: 20080612Description: 1433-42 p. digitalISSN:- 1524-4571
- 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
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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