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Lesch-Nyhan disease: A rare disorder with many unresolved aspects

Genet. 2010;19(10):1939–50. https://doi.org/10.1093/hmg/ddq072 10.1093/hmg/ddq072 Cristini S Navone S Canzi L Acerbi F Ciusani E Hladnik U et al Human neural stem cells: a model system for the study of Lesch-Nyhan disease neurological aspects Hum Mol Genet 2010 19 10 1939 – 50 https://doi.org/10.1093/hmg/ddq072 83 Kang TH, Guibinga GH, Jinnah HA, Friedmann T. HPRT deficiency coordinately dysregulates canonical Wnt and presenilin-1 signaling: a neuro-developmental regulatory role for a housekeeping gene? PLoS One. 2011 ;6(1):e16572. https

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