Biochemical characterization of the FH variant p.Lys414Glu reveals loss of enzymatic function and disrupted multimerization
Variants of uncertain significance (VUS) in fumarate hydratase (FH) complicate the diagnosis of hereditary leiomyomatosis and renal cell carcinoma (HLRCC). The FH VUS p.Lys414Glu has been reported in patients with HLRCC features but additional evidence is needed to support an interpretation of patho...
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| Autors principals: | , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Elsevier
2026-03-01
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| Col·lecció: | Molecular Genetics and Metabolism Reports |
| Matèries: | |
| Accés en línia: | http://www.sciencedirect.com/science/article/pii/S2214426925001028 |
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