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...
Main Authors: | Alaine C Keebaugh, Heather A Mitchell, Meriem Gaval-Cruz, Kimberly G Freeman, Gaylen L Edwards, David Weinshenker, James W Thomas |
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Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2011-01-01
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Series: | PLoS ONE |
Online Access: | http://europepmc.org/articles/PMC3144895?pdf=render |
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