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A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia

โœ Scribed by S. Kure; Hanna Mandel; Marie-Odile Rolland; Yoshiyuki Sakata; Toshikatsu Shinka; Aryeb Drugan; Avihu Boneh; Keiya Tada; Yoichi Matsubara; Kuniaki Narisawa


Publisher
Springer
Year
1998
Tongue
English
Weight
131 KB
Volume
102
Category
Article
ISSN
0340-6717

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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