Associated Papers
Case report: Whole exome sequencing identifies a novel variant in the HPRT1 gene in a male with developmental delay.
Zheng H et al.
Frontiers in Genetics, 2025
40092560 (PubMed )
Supplement: Table1.docx
Whole Exome Sequencing Facilitates Early Diagnosis of Lesch-Nyhan Syndrome: A Case Series.
Fang HH et al.
Diagnostics (basel, Switzerland), 2024
Clinical utility of genetic testing in Indian children with kidney diseases.
Saha A et al.
Bmc Nephrology, 2023
Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.
Fu R et al.
Brain : a Journal of Neurology, 2014
Hypoxanthine guanine phosphoribosyltransferase (HPRT) mutations in the Asian population.
Yamada Y et al.
Nucleosides, Nucleotides & Nucleic Acids, 2011
Analysis of the HPRT1 gene in 35 Italian Lesch-Nyhan families: 45 patients and 77 potential female carriers.
de Gemmis P et al.
Mutation Research, 2010
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
Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.
Yamada Y et al.
Nucleosides, Nucleotides & Nucleic Acids, 2004
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: identification of nine novel mutations.
Bertelli M et al.
Journal of Inherited Metabolic Disease, 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 characterization of two deletion events involving Alu-sequences, one novel base substitution and two tentative hotspot mutations in the hypoxanthine phosphoribosyltransferase (HPRT) gene in five patients with Lesch-Nyhan syndrome.
Tvrdik T et al.
Human Genetics, 1998
Splicing mutations at the HPRT locus in human T-lymphocytes in vivo.
Osterholm AM et al.
Environmental and Molecular Mutagenesis, 1998
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