Associated Papers
Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways.
Fu R et al.
Molecular Genetics and Metabolism, 2015
Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.
Fu R et al.
Brain : a Journal of Neurology, 2014
Novel hypoxanthine guanine phosphoribosyltransferase gene mutations in Saudi Arabian hyperuricemia patients.
Alanazi M et al.
Biomed Research International, 2014
Delineation of the motor disorder of Lesch-Nyhan disease.
Jinnah HA et al.
Brain : a Journal of Neurology, 2006
A comparison of somatic mutational spectra in healthy study populations from Russia, Sweden and USA.
Noori P et al.
Carcinogenesis, 2005
Structural and functional analysis of mutations at the human hypoxanthine phosphoribosyl transferase (HPRT1) locus.
Duan J et al.
Human Mutation, 2004
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