Mitochondrial Neurogastrointestinal Encephalopathy Due to Mutations in RRM2B

BACKGROUND: Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a progressive neurodegenerative disorder associated with thymidine phosphorylase deficiency resulting in high levels of plasma thymidine and a characteristic clinical phenotype. OBJECTIVE: To investigate the molecular basis of...

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Main Authors: Shaibani, Aziz, Shchelochkov, Oleg A., Zhang, Shulin, Katsonis, Panagiotis, Lichtarge, Olivier, Wong, Lee-Jun, Shinawi, Marwan
格式: Artigo
語言:Inglês
出版: 2009
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC2747647/
https://ncbi.nlm.nih.gov/pubmed/19667227
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/archneurol.2009.139
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