Functionally Null Mutations in Patients with the cblG-Variant Form of Methionine Synthase Deficiency
- 1 August 1998
- journal article
- case report
- Published by Elsevier in American Journal of Human Genetics
- Vol. 63 (2) , 409-414
- https://doi.org/10.1086/301976
Abstract
No abstract availableKeywords
This publication has 14 references indexed in Scilit:
- STRUCTURE-BASED PERSPECTIVES ON B12-DEPENDENT ENZYMESAnnual Review of Biochemistry, 1997
- The Yin-Yang of cobalamin biochemistryChemistry & Biology, 1997
- Human Methionine SynthaseJournal of Biological Chemistry, 1997
- Cloning, mapping and RNA analysis of the human methionine synthase geneHuman Molecular Genetics, 1996
- Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disordersHuman Molecular Genetics, 1996
- Defects in human methionine synthase in cblG patientsHuman Molecular Genetics, 1996
- Heterogeneity in cblG: Differential retention of cobalamin on methionine synthaseBiochemical Medicine and Metabolic Biology, 1992
- Functional methionine synthase deficiency (cblE and cblG): Clinical and biochemical heterogeneityAmerican Journal of Medical Genetics, 1989
- Hereditary Defect of Cobalamin Metabolism (CblGMutation) Presenting as a Neurologic Disorder in AdulthoodNew England Journal of Medicine, 1988
- Isolation of biologically active ribonucleic acid from sources enriched in ribonucleaseBiochemistry, 1979