Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome.

Lignende værker

• Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome.
  af: Wilson, J M, et al.
  Udgivet: (1983)
• Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome
  af: Arnold, William J., et al.
  Udgivet: (1972)
• Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome.
  af: Kim, K. J., et al.
  Udgivet: (1997)
• Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome
  af: Torres, Rosa J, et al.
  Udgivet: (2007)
• THE PURINE REQUIREMENT OF CELLS CULTURED FROM HUMANS AFFECTED WITH THE LESCH-NYHAN SYNDROME (HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY)
  af: Felix, Jeanette S., et al.
  Udgivet: (1969)