Mechanisms for phenotypic variation in Lesch–Nyhan disease and its variants

Lesch–Nyhan disease is a neurogenetic disorder caused by mutation of the HPRT1 gene on the X chromosome. There is significant variation in the clinical phenotype, with more than 300 different known mutations. There are few studies that have addressed whether similar mutations result in similar pheno...

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Main Authors: Sampat, Radhika, Fu, Rong, Larovere, Laura E., Torres, Rosa J., Ceballos-Picot, Irene, Fischbach, Michel, de Kremer, Raquel, Schretlen, David J., Puig, Juan Garcia, Jinnah, H. A.
Format: Artigo
Language:Inglês
Published: 2010
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3034646/
https://ncbi.nlm.nih.gov/pubmed/20981450
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-010-0901-9
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