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

Gelijkaardige items

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