Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.

Similar Items

• Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts.
  od: Davidson, B L, i dr.
  Izdano: (1989)
• A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man.
  od: Wilson, J M, i dr.
  Izdano: (1986)
• Hypoxanthine-guanine phosphoribosyltransferase. Genetic evidence for identical mutations in two partially deficient subjects.
  od: Davidson, B L, i dr.
  Izdano: (1988)
• Deficiency of the Housekeeping Gene Hypoxanthine–Guanine Phosphoribosyltransferase (HPRT) Dysregulates Neurogenesis
  od: Guibinga, Ghiabe-Henri, i dr.
  Izdano: (2009)
• Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome.
  od: Fujimori, S, i dr.
  Izdano: (1989)