Identification of a common nonsense mutation in Japanese patients with type I adenine phosphoribosyltransferase deficiency.

समान संसाधन

• Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation
  द्वारा: Valaperta, Rea, और अन्य
  प्रकाशित: (2014)
• 2,8-Dihydroxyadenine lithiasis in a Japanese patient heterozygous at the adenine phosphoribosyltransferase locus.
  द्वारा: Sahota, A, और अन्य
  प्रकाशित: (1991)
• Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient.
  द्वारा: Chen, J, और अन्य
  प्रकाशित: (1991)
• A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects.
  द्वारा: Mimori, A, और अन्य
  प्रकाशित: (1991)
• Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis.
  द्वारा: Engle, S J, और अन्य
  प्रकाशित: (1996)