Molecular genetics of the HPRT-deficiency syndromes

Hosp Pract (Off Ed). 1984 May;19(5):81-9, 93-7, 100. doi: 10.1080/21548331.1984.11702819.
No abstract available

MeSH terms

  • Amino Acid Sequence
  • Female
  • Genetic Carrier Screening
  • Gout / genetics
  • Gout / metabolism*
  • Humans
  • Hypoxanthine Phosphoribosyltransferase / deficiency*
  • Hypoxanthine Phosphoribosyltransferase / genetics
  • Lesch-Nyhan Syndrome / genetics
  • Lesch-Nyhan Syndrome / metabolism*
  • Mutation
  • Pregnancy
  • Prenatal Diagnosis
  • Purines / biosynthesis
  • Uric Acid / metabolism

Substances

  • Purines
  • Uric Acid
  • Hypoxanthine Phosphoribosyltransferase