Novel TBX5 mutations and molecular mechanism for Holt-Oram syndrome.
Fan
C
C
Center for Molecular Genetics, Department of Molecular Cardiology, Lerner Research Institute, The Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA.
Duhagon
M A
MA
Oberti
C
C
Chen
S
S
Hiroi
Y
Y
Komuro
I
I
Duhagon
P I
PI
Canessa
R
R
Wang
Q
Q
D016475:3T3 Cells; D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D021581:Active Transport, Cell Nucleus / Q000235:genetics; D000818:Animals; D009320:Atrial Natriuretic Factor / Q000235:genetics; D001483:Base Sequence; D002460:Cell Line; D002467:Cell Nucleus / Q000378:metabolism; D018389:Codon, Nonsense; D004247:DNA / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006330:Heart Defects, Congenital / Q000473:pathology*; D006801:Humans; D017880:Limb Deformities, Congenital / Q000473:pathology*; D008156:Luciferases / Q000235:genetics / Q000378:metabolism; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011401:Promoter Regions, Genetic; D011485:Protein Binding / Q000235:genetics; D011993:Recombinant Fusion Proteins / Q000235:genetics / Q000378:metabolism; D017384:Sequence Deletion; D013577:Syndrome; D020825:T-Box Domain Proteins / Q000235:genetics* / Q000378:metabolism
D018389:Codon, Nonsense; D011993:Recombinant Fusion Proteins; D020825:T-Box Domain Proteins; C103172:T-box transcription factor 5; D009320:Atrial Natriuretic Factor; D004247:DNA; D008156:Luciferases