Molecular , biochemical , and genetic characterization of a female patient with Lesch – Nyhan disease

  • Rinat C
  • Zoref-shani E
  • Ben-neriah Z
 et al. 
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Author-supplied keywords

  • dom x chromosome inactivation
  • female lesch
  • hprt
  • hprt dewciency
  • hypoxanthine phosphoribosyltransferase
  • lesch
  • lnd
  • non-ran-
  • nyhan disease
  • x-autosome translocation

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Authors

  • Choni Rinat

  • Esther Zoref-shani

  • Ziva Ben-neriah

  • Yael Bromberg

  • Rachel Becker-cohen

  • Sowa Feinstein

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