Associated Papers
Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.
Kure S et al.
Human Mutation, 2006
Crystal structure of human T-protein of glycine cleavage system at 2.0 A resolution and its implication for understanding non-ketotic hyperglycinemia.
Okamura-Ikeda K et al.
Journal of Molecular Biology, 2005
Genomic organization of the murine aminomethyltransferase gene (Amt).
Backofen B et al.
Dna Sequence : the Journal of Dna Sequencing and Mapping, 2002
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.
Toone JR et al.
Human Mutation, 2001
Atypical nonketotic hyperglycinemia with normal cerebrospinal fluid to plasma glycine ratio.
Jackson AH et al.
Journal of Child Neurology, 1999
A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia.
Kure S et al.
Journal of Human Genetics, 1998
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