Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome. [electronic resource]
Producer: 20110111Description: 130-9 p. digitalISSN:- 1755-3245
- Abnormalities, Multiple -- genetics
- Amino Acid Sequence
- Animals
- Atrial Natriuretic Factor -- genetics
- Binding Sites
- Case-Control Studies
- Cell Line
- DNA Mutational Analysis
- Electrophoretic Mobility Shift Assay
- Fibroblast Growth Factor 10 -- genetics
- GATA4 Transcription Factor -- genetics
- Genotype
- Heart Defects, Congenital -- genetics
- Heart Septal Defects, Atrial -- genetics
- Homeodomain Proteins -- genetics
- Humans
- Immunoprecipitation
- Lower Extremity Deformities, Congenital -- genetics
- Models, Molecular
- Molecular Sequence Data
- Mutation, Missense
- Phenotype
- Promoter Regions, Genetic
- Protein Binding
- Protein Conformation
- Rats
- Recombinant Fusion Proteins -- metabolism
- T-Box Domain Proteins -- chemistry
- Transfection
- Upper Extremity Deformities, Congenital -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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