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MicroRNA-mediated dysregulation of neural developmental genes in HPRT deficiency: clues for Lesch–Nyhan disease?

Mutations in the gene encoding the purine biosynthetic enzyme hypoxanthine–guanine phosphoribosyltransferase (HPRT) cause the intractable neurodevelopmental Lesch–Nyhan disease (LND) associated with aberrant development of brain dopamine pathways. In the current study, we have identified an increase...

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Detaylı Bibliyografya
Asıl Yazarlar: Guibinga, Ghiabe-Henri, Hrustanovic, Gorjan, Bouic, Kathryn, Jinnah, Hyder A., Friedmann, Theodore
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Oxford University Press 2012
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3259014/
https://ncbi.nlm.nih.gov/pubmed/22042773
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddr495
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