Associated Papers
Lesch-Nyhan disease: I. Construction of expression vectors for hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme and amyloid precursor protein (APP).
Nguyen KV et al.
Nucleosides, Nucleotides & Nucleic Acids, 2020
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations
Quantification of various APP-mRNA isoforms and epistasis in Lesch-Nyhan disease.
Nguyen KV et al.
Neuroscience Letters, 2017
Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways.
Fu R et al.
Molecular Genetics and Metabolism, 2015
Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.
Fu R et al.
Brain : a Journal of Neurology, 2014
Phenotypic variation among seven members of one family with deficiency of hypoxanthine-guanine phosphoribosyltransferase.
Ceballos-Picot I et al.
Molecular Genetics and Metabolism, 2013
Identification of novel mutations in the human HPRT gene.
Nguyen KV et al.
Nucleosides, Nucleotides & Nucleic Acids, 2013
Lesch-Nyhan variant syndrome: real-time rt-PCR for mRNA quantification in variable presentation in three affected family members.
Nguyen KV et al.
Nucleosides, Nucleotides & Nucleic Acids, 2012
Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants.
Sampat R et al.
Human Genetics, 2011
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