Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients.

Gelijkaardige items

• Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese.
  door: Hidaka, Y, et al.
  Gepubliceerd in: (1988)
• A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects.
  door: Mimori, A, et al.
  Gepubliceerd in: (1991)
• 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)
• Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency
  door: Runolfsdottir, Hrafnhildur L., et al.
  Gepubliceerd in: (2021)
• Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man
  door: Kelley, William N., et al.
  Gepubliceerd in: (1968)