2,8-Dihydroxyadenine lithiasis in a Japanese patient heterozygous at the adenine phosphoribosyltransferase locus.

All reported cases of 2,8-dihydroxyadenine (DHA) lithiasis have been due to functional homozygous deficiency of adenine phosphoribosyltransferase (APRT). Here we describe the first case of DHA lithiasis in a patient who has functional APRT activity in cultured lymphoblasts. The patient is heterozygo...

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Main Authors: Sahota, A, Chen, J, Behzadian, M A, Ravindra, R, Takeuchi, H, Stambrook, P J, Tischfield, J A
Formato: Artigo
Idioma:Inglês
Publicado: 1991
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Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683049/
https://ncbi.nlm.nih.gov/pubmed/1673292
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