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Inosine Triphosphate Pyrophosphohydrolase (ITPA) polymorphic sequence variants in adult hematological malignancy patients and possible association with mitochondrial DNA defects

BACKGROUND: Inosine triphosphate pyrophosphohydrolase (ITPase) is a ‘house-cleaning’ enzyme that degrades non-canonical (‘rogue’) nucleotides. Complete deficiency is fatal in knockout mice, but a mutant polymorphism resulting in low enzyme activity with an accumulation of ITP and other non-canonical...

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Detalles Bibliográficos
Autores principales: Zamzami, Mazin A, Duley, John A, Price, Gareth R, Venter, Deon J, Yarham, John W, Taylor, Robert W, Catley, Laurence P, Florin, Timothy HJ, Marinaki, Anthony M, Bowling, Francis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3765497/
https://www.ncbi.nlm.nih.gov/pubmed/23547827
http://dx.doi.org/10.1186/1756-8722-6-24