Identification of the first reported spl
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Jennifer R. Toone; Derek A. Applegarth; Marion B. Coulter-Mackie; Erick R. James
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Article
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2000
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John Wiley and Sons
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English
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A novel splice site mutation (IVS7-1G-->A) in the T-protein gene (aminomethyltransferase, or AMT) of the glycine cleavage enzyme complex was found in a patient with nonketotic hyperglycinemia (NKH). A PCR/restriction enzyme method to detect this mutation was used to screen 100 NKH alleles and identi