PRTFDC1 Is a Genetic Modifier of HPRT-Deficiency in the Mouse

Lesch-Nyhan disease (LND) is a severe X-linked neurological disorder caused by a deficiency of hypoxanthine phosphoribosyltransferase (HPRT). In contrast, HPRT-deficiency in the mouse does not result in the profound phenotypes such as self-injurious behavior observed in humans, and the genetic basis...

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Detalles Bibliográficos
Autores principales: Keebaugh, Alaine C., Mitchell, Heather A., Gaval-Cruz, Meriem, Freeman, Kimberly G., Edwards, Gaylen L., Weinshenker, David, Thomas, James W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3144895/
https://www.ncbi.nlm.nih.gov/pubmed/21818316
http://dx.doi.org/10.1371/journal.pone.0022381

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3144895/
https://www.ncbi.nlm.nih.gov/pubmed/21818316
http://dx.doi.org/10.1371/journal.pone.0022381

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