Associated Papers
Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and Treatment.
Niyazov DM et al.
Molecular Syndromology, 2016
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
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_4._Deleterious_Natural_Site_Variantsv3.xlsx › Supplementary_Table_4
Hypoxanthine guanine phosphoribosyltransferase (HPRT) mutations in the Asian population.
Yamada Y et al.
Nucleosides, Nucleotides & Nucleic Acids, 2011
Attenuated variants of Lesch-Nyhan disease.
Jinnah HA et al.
Brain : a Journal of Neurology, 2010
Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: novel mutations and the spectrum of Japanese mutations.
Yamada Y et al.
Nucleosides, Nucleotides & Nucleic Acids, 2008
[Deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)].
Yamada Y
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2008
Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations.
Yamada Y et al.
Molecular Genetics and Metabolism, 2007
Delineation of the motor disorder of Lesch-Nyhan disease.
Jinnah HA et al.
Brain : a Journal of Neurology, 2006
The spectrum of mutations causing HPRT deficiency: an update.
Jinnah HA et al.
Nucleosides, Nucleotides & Nucleic Acids, 2004
Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.
Yamada Y et al.
Nucleosides, Nucleotides & Nucleic Acids, 2004
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