Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme.

Ítems similars

• Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese.
  per: Hidaka, Y, et al.
  Publicat: (1988)
• A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects.
  per: Mimori, A, et al.
  Publicat: (1991)
• Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency
  per: Runolfsdottir, Hrafnhildur L., et al.
  Publicat: (2021)
• Nucleotide sequence of the human APRT gene.
  per: Hidaka, Y, et al.
  Publicat: (1987)
• Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients.
  per: Kamatani, N, et al.
  Publicat: (1992)