2000•Biochimica et Biophysica Acta (BBA) - Molecular Basis of DiseaseOpen access

Kelley-Seegmiller syndrome due to a unique variant of hypoxanthine-guanine phosphoribosyltransferase: reduced affinity for 5-phosphoribosyl-1-pyrophosphate manifested only at low, physiological substrate concentrations

E. Zoref‐Shani, Sofia Feinstein, Yaacov Frishberg, Yael Bromberg, Oded Sperling

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Key concepts: Hypoxanthine-guanine phosphoribosyltransferase, Hypoxanthine, Phosphoribosyltransferase, Hypoxanthine Phosphoribosyltransferase, Guanine, Pyrophosphate, Lesch–Nyhan syndrome, Chemistry

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Kelley-Seegmiller syndrome due to a unique variant of hypoxanthine-guanine phosphoribosyltransferase: reduced affinity for 5-phosphoribosyl-1-pyrophosphate manifested only at low, physiological substrate concentrations — Research Paper | ScholarLens