Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency.
Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency. — المؤلف: Heuberger, Kathrin — Biochimica et biophysica acta. Molecular basis of disease 20200203
- المؤلف
- Heuberger, Kathrin
- النشر
- Biochimica et biophysica acta. Molecular basis of disease 20200203
- الوصف
- 1265-1272 p.
- الموضوعات
- Amino Acid Metabolism, Inborn Errors؛ Codon, Nonsense؛ Crystallography, X-Ray؛ Genetic Predisposition to Disease؛ Homozygote؛ Humans؛ Models, Molecular؛ Mutation