Associated Papers
Therapeutic gene correction for Lesch-Nyhan syndrome using CRISPR-mediated base and prime editing.
Jang G et al.
Molecular Therapy. Nucleic Acids, 2023
36910714 (PubMed )
Supplement: mmc1.pdf
Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene.
Fu R et al.
The Journal of Biological Chemistry, 2012
Attenuated variants of Lesch-Nyhan disease.
Jinnah HA et al.
Brain : a Journal of Neurology, 2010
Structural and functional analysis of mutations at the human hypoxanthine phosphoribosyl transferase (HPRT1) locus.
Duan J et al.
Human Mutation, 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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