Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects.
Gong
W
W
Gottlieb
S
S
Collins
J
J
Blescia
A
A
Dietz
H
H
Goldmuntz
E
E
McDonald-McGinn
D M
DM
Zackai
E H
EH
Emanuel
B S
BS
Driscoll
D A
DA
Budarf
M L
ML
D020413:3' Untranslated Regions / Q000235:genetics; D017398:Alternative Splicing / Q000235:genetics; D000818:Animals; D018376:Cardiovascular Abnormalities / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics*; D004252:DNA Mutational Analysis; D004062:DiGeorge Syndrome / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007438:Introns / Q000235:genetics; D051379:Mice; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017384:Sequence Deletion / Q000235:genetics; D020825:T-Box Domain Proteins / Q000235:genetics*
D020413:3' Untranslated Regions; D020825:T-Box Domain Proteins; C108625:TBX1 protein, human; C491573:Tbx1 protein, mouse