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Limited dCTP Availability Accounts for Mitochondrial DNA Depletion in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a severe human disease caused by mutations in TYMP, the gene encoding thymidine phosphorylase (TP). It belongs to a broader group of disorders characterized by a pronounced reduction in mitochondrial DNA (mtDNA) copy number in one or m...

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Detalles Bibliográficos
Autores principales: González-Vioque, Emiliano, Torres-Torronteras, Javier, Andreu, Antoni L., Martí, Ramon
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3069123/
https://www.ncbi.nlm.nih.gov/pubmed/21483760
http://dx.doi.org/10.1371/journal.pgen.1002035