Article
NKX2.5 mutations in patients with tetralogy of fallot.
Circulation - 20 Nov 2001
Goldmuntz E, Geiger E, Benson D W
Abstract excerpt
BACKGROUND: Recent reports have implicated mutations in the transcription factor NKX2.5 as a cause of tetralogy of Fallot (TOF). To estimate the frequency of NKX2.5 mutations in TOF patients and to further investigate the genotype-phenotype correlation of NKX2.5 mutations, we genotyped 114 TOF patients. METHODS AND RESULTS: Patients were recruited prospectively (November 1992 through June 1999) and tested for a...
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