Associated Papers
Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene.
Nguyen KV et al.
Nucleosides, Nucleotides & Nucleic Acids, 2017
Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.
Fu R et al.
Brain : a Journal of Neurology, 2014
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_4._Deleterious_Natural_Site_Variantsv3.xlsx › Supplementary_Table_4
Novel mutations in the human HPRT gene.
Nguyen KV et al.
Nucleosides, Nucleotides & Nucleic Acids, 2011
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