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. © 2001 Wiley‐Liss, Inc.
Human Mutation – Wiley
Published: Jan 1, 2001
Keywords: nonketotic hyperglycinemia; NKH2; glycine; T‐protein; aminomethyltransferase; AMT; glycine cleavage system T protein; GCST
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