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A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia

โœ Scribed by S. Kure; Toshikatsu Shinka; Yoshiyuki Sakata; Narasaki Osamu; Masaru Takayanagi; Keiya Tada; Yoichi Matsubara; Kuniaki Narisawa


Publisher
Nature Publishing Group
Year
1998
Tongue
English
Weight
236 KB
Volume
43
Category
Article
ISSN
1435-232X

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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