Associated Papers
Discovering functionally important sites in proteins.
Cagiada M et al.
Nature Communications, 2023
Detailed genetic and clinical analysis of a novel de novo variant in HPRT1: Case report of a female patient from Saudi Arabia with Lesch-Nyhan syndrome.
AlBakheet A et al.
Frontiers in Genetics, 2022
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
BCR-ABL gene expression is required for its mutations in a novel KCL-22 cell culture model for acquired resistance of chronic myelogenous leukemia.
Yuan H et al.
The Journal of Biological Chemistry, 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
Unusual presentation of Kelley-Seegmiller syndrome.
Sebesta I 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
An unusual cause of renal amyloidosis secondary to gout: the first description of familial occurrence.
Vernerová Z et al.
Nucleosides, Nucleotides & Nucleic Acids, 2006
Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.
Yamada Y et al.
Nucleosides, Nucleotides & Nucleic Acids, 2004
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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