Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene
Marina V. Kurkina, Svetlana Mikhaylova, Galina Baydakova, Е. В. Сайфуллина, С. А. Коростелев, Denis V. Pyankov, Ilya Kanivets, Maxim A. Yunin, Natalya L. Pechatnikova, Ekaterina Zakharova
Topics & Concepts
Missense mutationGlutaric acidGeneticsAlleleGeneGenotypeMutationBiologyInternal medicineMolecular biologyMedicineBiochemistryMetabolism and Genetic DisordersBiochemical and Molecular ResearchAmino Acid Enzymes and Metabolism