Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome.

Boogerd, Cornelis J J

Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome. [electronic resource] - Cardiovascular research Oct 2010 - 130-9 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1755-3245

10.1093/cvr/cvq178 doi


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