Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia)

Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine... Eight novel mutations were found in the P-protein (glycine decarboxylase) gene (GLDC) of the glycine cleavage system (EC 2.1.1.10) by screening five exons of the gene in patients with glycine encephalopathy (NKH). The mutations identified were of eight single base changes: a one-base deletion 1054del A, a splice site mutation IVS18-2A→G and six amino acid substitutions A283P, A313P, P329T, R410K, P700A, and G762R. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Molecular Genetics and Metabolism Elsevier

Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia)

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Publisher
Elsevier
Copyright
Copyright © 2002 Elsevier Science (USA)
ISSN
1096-7192
eISSN
1096-7206
DOI
10.1016/S1096-7192(02)00041-0
Publisher site
See Article on Publisher Site

Abstract

Eight novel mutations were found in the P-protein (glycine decarboxylase) gene (GLDC) of the glycine cleavage system (EC 2.1.1.10) by screening five exons of the gene in patients with glycine encephalopathy (NKH). The mutations identified were of eight single base changes: a one-base deletion 1054del A, a splice site mutation IVS18-2A→G and six amino acid substitutions A283P, A313P, P329T, R410K, P700A, and G762R.

Journal

Molecular Genetics and MetabolismElsevier

Published: Jul 1, 2002

References

  • Biochemical and molecular investigations of patients with nonketotic hyperglycinemia
    Toone, J.R.; Applegarth, D.A.; Coulter-Mackie, M.B.; James, E.R.

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