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Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder
Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of cellular vitamin B12 metabolism. We previously showed that the protein carrying the mutation responsible for late-onset cblC (MMACHC-R161Q), treatable with high dose OHCbl, is able to bind OHCbl with wild-type a...
| Autores principales: | , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Academic Press
2010
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2923755/ https://www.ncbi.nlm.nih.gov/pubmed/20219402 http://dx.doi.org/10.1016/j.ymgme.2010.02.005 |