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Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia)

โœ Scribed by Jennifer R. Toone; Derek A. Applegarth; Shigeo Kure; Marion B. Coulter-Mackie; Payam Sazegar; Kanako Kojima; Akiko Ichinohe


Book ID
117735387
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
302 KB
Volume
76
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