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The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency
BACKGROUND: Fumarate hydratase (HGNC approved gene symbol – FH), also known as fumarase, is an enzyme of the tricarboxylic acid (TCA) cycle, involved in fundamental cellular energy production. First described by Zinn et al in 1986, deficiency of FH results in early onset, severe encephalopathy. In 2...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
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BioMed Central
2008
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| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2322961/ https://ncbi.nlm.nih.gov/pubmed/18366737 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-9-20 |
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