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
Description of the Molecular and Phenotypic Spectrum of Lesch-Nyhan Disease in Eight Chinese Patients.
Li L et al.
Frontiers in Genetics, 2022
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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