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

Podobne zapisy

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