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Late-onset thymidine kinase 2 deficiency: a review of 18 cases

 

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Opened Access Late-onset thymidine kinase 2 deficiency: a review of 18 cases
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Author: Domínguez González, Cristina
Hernández Laín, Aurelio
Rivas, Eloy
Hernández Voth, Ana R.
Sayas Catalán, Javier
Fernández Torrón, Roberto
Fuiza Luces, Carmen
García García, Jorge M.
Caballero Eraso, Candelaria
Paradas, Carmen
Department: Instituto de Biomedicina de Sevilla (IBIS)
Date: 2019-05-06
Published in: Orphanet journal of rare diseases, 14 (1), 100-1-100-10.
Document type: Article
Abstract: BACKGROUND: TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the 'myopathic form' of the mitochondrial depletion...
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Cite: Domínguez González, C., Hernández Laín, A., Rivas, E., Hernández Voth, A.R., Sayas Catalán, J., Fernández Torrón, R.,...,Paradas, C. (2019). Late-onset thymidine kinase 2 deficiency: a review of 18 cases. Orphanet journal of rare diseases, 14 (1), 100-1-100-10.
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URI: https://hdl.handle.net/11441/87756

DOI: 10.1186/s13023-019-1071-z

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