Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis.

Adenine phosphoribosyltransferase (APRT) deficiency in humans is an autosomal recessive syndrome characterized by the urinary excretion of adenine and the highly insoluble compound 2,8-dihydroxyadenine (DHA) that can produce kidney stones or renal failure. Targeted homologous recombination in embryo...

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Autors principals: Engle, S J, Stockelman, M G, Chen, J, Boivin, G, Yum, M N, Davies, P M, Ying, M Y, Sahota, A, Simmonds, H A, Stambrook, P J, Tischfield, J A
Format: Artigo
Idioma:Inglês
Publicat: 1996
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC39241/
https://ncbi.nlm.nih.gov/pubmed/8643571
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