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2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene
2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency is a novel inborn error of isoleucine degradation. In this article, we report the elucidation of the molecular basis of MHBD deficiency. To this end, we purified the enzyme from bovine liver. MALDI-TOF mass spectrometry analysis revealed...
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Main Authors: | , , , , , , , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
The American Society of Human Genetics
2003
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1180283/ https://ncbi.nlm.nih.gov/pubmed/12696021 |
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