Diagnosis of heterozygous states for adenine phosphoribosyltransferase deficiency based on detection of in vivo somatic mutants in blood T cells: application to screening of heterozygotes.

Lignende værker

• A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects.
  af: Mimori, A, et al.
  Udgivet: (1991)
• Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese.
  af: Hidaka, Y, et al.
  Udgivet: (1988)
• Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients.
  af: Kamatani, N, et al.
  Udgivet: (1992)
• Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage.
  af: Kamatani, N, et al.
  Udgivet: (1989)
• Kidney Disease in Adenine Phosphoribosyltransferase Deficiency
  af: Runolfsdottir, Hrafnhildur Linnet, et al.
  Udgivet: (2015)