Article ID Journal Published Year Pages File Type
8315873 Clinica Chimica Acta 2011 5 Pages PDF
Abstract
► The present study investigated JAG1 gene mutations in patients with Tetralogy of Fallot (TOF). ► We utilized PCR-SSCP for screening the TOF patients. ► Four novel variations 765 C>A, 814 G>T, 834 G>T; and 816 G>T were identified. ► These variations effect EGF like repeat and disturb ligand-receptor binding ability. ► Novel JAG1 gene variations play an important role in the causation of TOF
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Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry
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