Associated Papers
Identification of Two Novel Mutations in Aminomethyltransferase Gene in Cases of Glycine Encephalopathy.
Radha Rama Devi A et al.
Journal of Pediatric Genetics, 2018
Using whole-exome sequencing to identify inherited causes of autism.
Yu TW et al.
Neuron, 2013
Crystal structure of T-protein of the glycine cleavage system. Cofactor binding, insights into H-protein recognition, and molecular basis for understanding nonketotic hyperglycinemia.
Lee HH et al.
The Journal of Biological Chemistry, 2004
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
A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia.
Kure S et al.
Human Genetics, 1998
Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia.
Nanao K et al.
Human Genetics, 1994
Select a paper to view details