Eight novel mutations were found in the P-protein (glycine decarboxylase) gene (GLDC) of the glycine cleavage system (EC 126.96.36.199) 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.
Molecular Genetics and Metabolism – Elsevier
Published: Jul 1, 2002
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