A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family.
Okubo
A
A
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Miyoshi
O
O
Baba
K
K
Takagi
M
M
Tsukamoto
K
K
Kinoshita
A
A
Yoshiura
K
K
Kishino
T
T
Ohta
T
T
Niikawa
N
N
Matsumoto
N
N
D000328:Adult; D000595:Amino Acid Sequence / Q000235:genetics; D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D050991:GATA4 Transcription Factor; D008040:Genetic Linkage / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D006239:Haplotypes / Q000235:genetics; D006344:Heart Septal Defects, Atrial / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011666:Pulmonary Valve Stenosis / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics*
D004268:DNA-Binding Proteins; D050991:GATA4 Transcription Factor; C484170:GATA4 protein, human; D005819:Genetic Markers; D014157:Transcription Factors