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

Eitemau Tebyg

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