The Effect of p.Arg25Cys Alteration in NKX2-5 on Conotruncal Heart Anomalies: Mutation or Polymorphism?

@article{Akcaboy2007TheEO,
  title={The Effect of p.Arg25Cys Alteration in NKX2-5 on Conotruncal Heart Anomalies: Mutation or Polymorphism?},
  author={Meltem Akcaboy and Filiz Başak Cengiz and Beste Inceoglu and Tayfun Uçar and S. Atalay and Ercan Tutar and Mustafa Tekin},
  journal={Pediatric Cardiology},
  year={2007},
  volume={29},
  pages={126-129}
}
Heterozygous mutations in the NKX2-5 gene of patients with various congenital heart defects have been reported. Most of the congenital heart defects associated with the mutations in the NKX2-5 gene are conotruncal heart anomalies, primarily the tetralogy of Fallot. In this study, the authors screened 72 Turkish children with conotruncal heart anomalies and 185 healthy control subjects to find the NKX2-5 alterations. They found one previously documented NKX2-5 missense alteration, heterozygous c… CONTINUE READING

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Mutations in the cardiac transcription factor NKX2-5 affect diverse cardiac development pathways

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