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

समान संसाधन

• A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects.
  द्वारा: Mimori, A, और अन्य
  प्रकाशित: (1991)
• Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme.
  द्वारा: Hidaka, Y, और अन्य
  प्रकाशित: (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.
  द्वारा: Kamatani, N, और अन्य
  प्रकाशित: (1989)
• Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients.
  द्वारा: Kamatani, N, और अन्य
  प्रकाशित: (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.
  द्वारा: Hakoda, M, और अन्य
  प्रकाशित: (1991)