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Biochemical Characterization of Two Clinically-Relevant Human Fumarase Variants Defective for Oligomerization
BACKGROUND: Fumarase, a significant enzyme of energy metabolism, catalyzes the reversible hydration of fumarate to L-malate. Mutations in the FH gene, encoding human fumarase, are associated with fumarate hydratase deficiency (FHD) and hereditary leiomyomatosis and renal cell cancer (HLRCC). Fumaras...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Bentham Open
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5806193/ https://www.ncbi.nlm.nih.gov/pubmed/29456767 http://dx.doi.org/10.2174/1874091X01812010001 |