2002•Biochimica et Biophysica Acta (BBA) - Molecular Basis of DiseaseOpen access

Biochemical and molecular study of mentally retarded patient with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase

Vanna Micheli, Birgit Gathof, Marina Rocchigiani, G. Jacomelli, Silvia Sestini, Luana Peruzzi, L. Notarantonio, Barbara Cerboni, Giuseppe Hayek, G. Pompucci

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Key concepts: Hypoxanthine-guanine phosphoribosyltransferase, Phosphoribosyltransferase, Lesch–Nyhan syndrome, Hypoxanthine Phosphoribosyltransferase, NAD+ kinase, Hypoxanthine, Nucleotide, Biochemistry