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NKX2.5 mutations in patients with congenital heart disease.

Doff B McElhinney et al.

Journal of the American College of Cardiology, 42(9), 1650-1655 (2003-11-11)

The purpose of this study was to estimate the frequency of NKX2.5 mutations in specific cardiovascular anomalies and investigate genotype-phenotype correlations in individuals with NKX2.5 mutations. Recent reports have implicated mutations in the transcription factor NKX2.5 as a cause of

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