aminomethyltransferase and phenyldiazene

aminomethyltransferase has been researched along with phenyldiazene* in 1 studies

Other Studies

1 other study(ies) available for aminomethyltransferase and phenyldiazene

Article	Year
Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH). Molecular genetics and metabolism, 2001, Volume: 72, Issue:4 Screening a DNA bank from 50 patients with enzymatic confirmation of their diagnosis of nonketotic hyperglycinemia gave allele frequencies of 5% for R515S of P-protein (glycine decarboxylase) and 7% for R320H of T-protein (aminomethyltransferase). In a previous report we found that 3% of the same patient alleles were positive for T-protein IVS7-1G>A. In total, testing for these three mutations identified 15% of alleles and positive results (one or two mutations) were found in 11 of the 50 patients. In addition, a novel point mutation in T-protein, N145I, was found in a single case and a PCR/restriction enzyme assay was developed for its detection. Topics: Amino Acid Oxidoreductases; Aminomethyltransferase; DNA Primers; Exons; Gene Frequency; Glycine; Glycine Dehydrogenase (Decarboxylating); Heterozygote; Humans; Hydroxymethyl and Formyl Transferases; Hyperglycinemia, Nonketotic; Imines; Infant, Newborn; Ketosis; Liver; Mutation; Polymerase Chain Reaction; Prenatal Diagnosis	2001

Article

Year

Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH).

Molecular genetics and metabolism, 2001, Volume: 72, Issue:4

Screening a DNA bank from 50 patients with enzymatic confirmation of their diagnosis of nonketotic hyperglycinemia gave allele frequencies of 5% for R515S of P-protein (glycine decarboxylase) and 7% for R320H of T-protein (aminomethyltransferase). In a previous report we found that 3% of the same patient alleles were positive for T-protein IVS7-1G>A. In total, testing for these three mutations identified 15% of alleles and positive results (one or two mutations) were found in 11 of the 50 patients. In addition, a novel point mutation in T-protein, N145I, was found in a single case and a PCR/restriction enzyme assay was developed for its detection.

Topics: Amino Acid Oxidoreductases; Aminomethyltransferase; DNA Primers; Exons; Gene Frequency; Glycine; Glycine Dehydrogenase (Decarboxylating); Heterozygote; Humans; Hydroxymethyl and Formyl Transferases; Hyperglycinemia, Nonketotic; Imines; Infant, Newborn; Ketosis; Liver; Mutation; Polymerase Chain Reaction; Prenatal Diagnosis

2001