2,8-Dihydroxyadenine lithiasis in a Japanese patient heterozygous at the adenine phosphoribosyltransferase locus.

Lignende værker

• Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis.
  af: Engle, S J, et al.
  Udgivet: (1996)
• Identification of a common nonsense mutation in Japanese patients with type I adenine phosphoribosyltransferase deficiency.
  af: Sahota, A, et al.
  Udgivet: (1990)
• Genetic instability at the adenine phosphoribosyltransferase locus in mouse L cells.
  af: Tischfield, J A, et al.
  Udgivet: (1982)
• Dihydroxyadenine stone with adenine phosphoribosyltransferase deficiency: A case report
  af: Krishnappa, Pramod, et al.
  Udgivet: (2017)
• Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient.
  af: Chen, J, et al.
  Udgivet: (1991)