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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Detalles Bibliográficos
Autores principales: Bayley, Jean-Pierre, Launonen, Virpi, Tomlinson, Ian PM
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Database
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2322961/
https://www.ncbi.nlm.nih.gov/pubmed/18366737
http://dx.doi.org/10.1186/1471-2350-9-20

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2322961/
https://www.ncbi.nlm.nih.gov/pubmed/18366737
http://dx.doi.org/10.1186/1471-2350-9-20

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