TY  - GEN
AU  - Boogerd,Cornelis J J
AU  - Dooijes,Dennis
AU  - Ilgun,Aho
AU  - Mathijssen,Inge B
AU  - Hordijk,Roel
AU  - van de Laar,Ingrid M B H
AU  - Rump,Patrick
AU  - Veenstra-Knol,Hermine E
AU  - Moorman,Antoon F M
AU  - Barnett,Phil
AU  - Postma,Alex V
TI  - Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome
SN  - 1755-3245
PY  - 2011///0111
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Amino Acid Sequence
KW  - Animals
KW  - Atrial Natriuretic Factor
KW  - Binding Sites
KW  - Case-Control Studies
KW  - Cell Line
KW  - DNA Mutational Analysis
KW  - Electrophoretic Mobility Shift Assay
KW  - Fibroblast Growth Factor 10
KW  - GATA4 Transcription Factor
KW  - Genotype
KW  - Heart Defects, Congenital
KW  - Heart Septal Defects, Atrial
KW  - Homeodomain Proteins
KW  - Humans
KW  - Immunoprecipitation
KW  - Lower Extremity Deformities, Congenital
KW  - Models, Molecular
KW  - Molecular Sequence Data
KW  - Mutation, Missense
KW  - Phenotype
KW  - Promoter Regions, Genetic
KW  - Protein Binding
KW  - Protein Conformation
KW  - Rats
KW  - Recombinant Fusion Proteins
KW  - metabolism
KW  - T-Box Domain Proteins
KW  - chemistry
KW  - Transfection
KW  - Upper Extremity Deformities, Congenital
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1093/cvr/cvq178
ER  -