Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8315873 | Clinica Chimica Acta | 2011 | 5 Pages |
Abstract
⺠The present study investigated JAG1 gene mutations in patients with Tetralogy of Fallot (TOF). ⺠We utilized PCR-SSCP for screening the TOF patients. ⺠Four novel variations 765 C>A, 814 G>T, 834 G>T; and 816 G>T were identified. ⺠These variations effect EGF like repeat and disturb ligand-receptor binding ability. ⺠Novel JAG1 gene variations play an important role in the causation of TOF
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Authors
Srujana Kola, Nageswara Rao Koneti, Jaya Prakash Golla, Jyothy Akka, Sandhya Devi Gundimeda, Hema Prasad Mundluru,