Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese.

Gelijkaardige items

• A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects.
  door: Mimori, A, et al.
  Gepubliceerd in: (1991)
• Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme.
  door: Hidaka, Y, et al.
  Gepubliceerd in: (1987)
• Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage.
  door: Kamatani, N, et al.
  Gepubliceerd in: (1989)
• Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients.
  door: Kamatani, N, et al.
  Gepubliceerd in: (1992)
• 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.
  door: Hakoda, M, et al.
  Gepubliceerd in: (1991)