Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD.
Watanabe
Y
Y
Benson
D W
DW
Yano
S
S
Akagi
T
T
Yoshino
M
M
Murray
J C
JC
D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D004562:Electrocardiography; D005192:Family Health; D005260:Female; D016368:Frameshift Mutation; D005838:Genotype; D006344:Heart Septal Defects, Atrial / Q000235:genetics* / Q000503:physiopathology; D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D017384:Sequence Deletion; D012857:Situs Inversus / Q000235:genetics*; D014157:Transcription Factors; D029867:Xenopus Proteins
D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins; C095552:NKX2-5 protein, human; D014157:Transcription Factors; D029867:Xenopus Proteins; D004247:DNA