Genotype-Phenotype Correlations in Lesch-Nyhan Disease: MOVING BEYOND THE GENE

Lesch-Nyhan disease and its attenuated variants are caused by mutations in the HPRT1 gene, which encodes the purine recycling enzyme hypoxanthine-guanine phosphoribosyltransferase. The mutations are heterogeneous, with more than 400 different mutations already documented. Prior efforts to correlate...

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Bibliographic Details
Main Authors: Fu, Rong, Jinnah, H. A.
Format: Artigo
Language:Inglês
Published: American Society for Biochemistry and Molecular Biology 2012
Subjects:
Molecular Bases of Disease
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3270957/
https://ncbi.nlm.nih.gov/pubmed/22157001
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M111.317701
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