Article
Investigation of somatic NKX2-5 mutations in congenital heart disease.
Journal of medical genetics - 1 Feb 2009
Draus J M, Hauck M A, Goetsch M, Austin E H, Tomita-Mitchell A, Mitchell M E
Abstract excerpt
BACKGROUND: Reports of somatic mutations found in hearts with cardiac septal defects have suggested that these mutations are aetiologic in pathologic cardiac development. However, the hearts in these reports had been fixed in formalin for over 22 years. Because of the profound implication of this finding, we attempted to replicate it using fresh frozen tissue obtained in the current era from 28 patients with...
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