Associated Papers
Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.
Fu R et al.
Brain : a Journal of Neurology, 2014
Phenotypic variation among seven members of one family with deficiency of hypoxanthine-guanine phosphoribosyltransferase.
Ceballos-Picot I et al.
Molecular Genetics and Metabolism, 2013
Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene.
Fu R et al.
The Journal of Biological Chemistry, 2012
Attenuated variants of Lesch-Nyhan disease.
Jinnah HA et al.
Brain : a Journal of Neurology, 2010
Hypoxanthine-guanine phosphoribosyltransferase deficiency: biochemical and molecular findings in six Argentine patients.
Laróvere LE et al.
Nucleosides, Nucleotides & Nucleic Acids, 2007
Delineation of the motor disorder of Lesch-Nyhan disease.
Jinnah HA et al.
Brain : a Journal of Neurology, 2006
International Commission for Protection Against Environmental Mutagens and Carcinogens. Working paper no. 3. Somatic mutant frequency, mutation rates and mutational spectra in the human population in vivo.
Cole J et al.
Mutation Research, 1994
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