Associated Papers
Phenotypic and molecular spectrum of Korean patients with Lesch-Nyhan syndrome and attenuated clinical variants.
Cho JH et al.
Metabolic Brain Disease, 2019
Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene.
Fu R et al.
The Journal of Biological Chemistry, 2012
Hypoxanthine-guanine phosphoribosylotransferase deficiency--the spectrum of Polish mutations.
Jurecka A et al.
Journal of Inherited Metabolic Disease, 2008
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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