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Recurrent Mutations in P- and T-Proteins of the Glycine Cleavage Complex and a Novel T-Protein Mutation (N145I): A Strategy for the Molecular Investigation of Patients with Nonketotic Hyperglycinemia (NKH)

โœ Scribed by Jennifer R. Toone; Derek A. Applegarth; Marion B. Coulter-Mackie; Erick R. James


Book ID
115639834
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
61 KB
Volume
72
Category
Article
ISSN
1096-7192

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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

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