A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family

J Med Genet. 2004 Jul;41(7):e97. doi: 10.1136/jmg.2004.018895.
No abstract available

Publication types

  • Multicenter Study

MeSH terms

  • Adult
  • Amino Acid Sequence / genetics
  • Chromosome Mapping
  • Chromosomes, Human, Pair 8 / genetics
  • DNA-Binding Proteins / genetics*
  • Female
  • GATA4 Transcription Factor
  • Genetic Linkage / genetics
  • Genetic Markers / genetics
  • Haplotypes / genetics
  • Heart Septal Defects, Atrial / genetics*
  • Humans
  • Lod Score
  • Male
  • Molecular Sequence Data
  • Mutation / genetics*
  • Pedigree
  • Pulmonary Valve Stenosis / genetics
  • Transcription Factors / genetics*

Substances

  • DNA-Binding Proteins
  • GATA4 Transcription Factor
  • GATA4 protein, human
  • Genetic Markers
  • Transcription Factors