Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts.

Lignende værker

• Hypoxanthine-guanine phosphoribosyltransferase. Genetic evidence for identical mutations in two partially deficient subjects.
  af: Davidson, B L, et al.
  Udgivet: (1988)
• A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man.
  af: Wilson, J M, et al.
  Udgivet: (1986)
• Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
  af: Davidson, B L, et al.
  Udgivet: (1991)
• Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome.
  af: Wilson, J M, et al.
  Udgivet: (1983)
• Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome.
  af: Fujimori, S, et al.
  Udgivet: (1989)