Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage.

Ítems similars

• Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese.
  per: Hidaka, Y, et al.
  Publicat: (1988)
• Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation
  per: Valaperta, Rea, et al.
  Publicat: (2014)
• A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects.
  per: Mimori, A, et al.
  Publicat: (1991)
• Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme.
  per: Hidaka, Y, et al.
  Publicat: (1987)
• Detection of mutations in adenine phosphoribosyltransferase (APRT) deficiency using the LightCycler system
  per: Funato, T., et al.
  Publicat: (2001)