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Eighteen novel mutations in patients with Lesch–Nyhan syndrome or partial hypoxanthine phosphoribosyltransferase deficiency

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Journal of Inherited Metabolic Disease

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References

  • Eads JC, Scapin G, Xu Y, Grubmeyer C, Sacchettini JC (1994) The crystal structure of human hypoxanthine–guanine phosphoribosyltransferase with bound GMP. Cell 78: 325–334.

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  • Willers I, Singh S, Goedde HW (1984) Studies in fibroblasts of patients with Lesch–Nyhan syndrome and HPRT variants. Enzyme 32: 241–247.

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Authors and Affiliations

  1. Institut für Humangenetik, Universitäts-Klinikum Eppendorf, Butenfeld 42, D-22529, Hamburg, Germany

    I. Willers, H. Bolz & A. Gal

  2. Institut für Humangenetik, Ernst-Moritz-Arndt-Universität, Greifswald, Germany

    M. Wehnert

Authors
  1. I. Willers
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  2. H. Bolz
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  3. M. Wehnert
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  4. A. Gal
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Willers, I., Bolz, H., Wehnert, M. et al. Eighteen novel mutations in patients with Lesch–Nyhan syndrome or partial hypoxanthine phosphoribosyltransferase deficiency. J Inherit Metab Dis 22, 845–846 (1999). https://doi.org/10.1023/A:1005522527689

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  • DOI: https://doi.org/10.1023/A:1005522527689

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