Identification of the first reported splice site mutation (IVS7-1G-->A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia.

J. R. Toone; D. A. Applegarth; M. B. Coulter-Mackie; E. R. James

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Identification of the first reported splice site mutation (IVS7-1G-->A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia.

Human mutation (2001) 17(1) 76

DOI: 10.1002/1098-1004(2001)17:1<76::AID-HUMU17>3.0.CO;2-0

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Abstract

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 identified the mutation in three unrelated families. Copyright 2001 Wiley-Liss, Inc.

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Toone, J. R., Applegarth, D. A., Coulter-Mackie, M. B., & James, E. R. (2001). Identification of the first reported splice site mutation (IVS7-1G-->A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia. Human Mutation, 17(1), 76. https://doi.org/10.1002/1098-1004(2001)17:1<76::AID-HUMU17>3.0.CO;2-0

Identification of the first reported splice site mutation (IVS7-1G-->A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia.

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