Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Discovering functionally important sites in proteins.
Cagiada M et al.
Nature Communications, 2023
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
GLUT9 influences uric acid concentration in patients with Lesch-Nyhan disease.
Torres RJ et al.
International Journal of Rheumatic Diseases, 2018
Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.
Fu R et al.
Brain : a Journal of Neurology, 2014
Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene.
Fu R et al.
The Journal of Biological Chemistry, 2012
Hypoxanthine guanine phosphoribosyltransferase (HPRT) mutations in the Asian population.
Yamada Y et al.
Nucleosides, Nucleotides & Nucleic Acids, 2011
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
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
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
Structural and functional analysis of mutations at the human hypoxanthine phosphoribosyl transferase (HPRT1) locus.
Duan J et al.
Human Mutation, 2004
The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases.
Jinnah HA et al.
Mutation Research, 2000
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts.
Davidson BL et al.
The Journal of Clinical Investigation, 1989