✦ LIBER ✦

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

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

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 579 KB
Volume: 17
Category: Article
ISSN: 1059-7794
DOI: 10.1002/1098-1004(2001)17:1<76::aid-humu17>3.0.co;2-0

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✦ Synopsis

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.