Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation

BACKGROUND: Adenine phosphoribosyltransferase deficiency (APRTD) is an under estimated genetic form of kidney stones and/or kidney failure, characterized by intratubular precipitation of 2,8-dihydroxyadenine crystals (2,8-DHA). Currently, five pathologic allelic variants have been identified as resp...

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Autors principals: Valaperta, Rea, Rizzo, Vittoria, Lombardi, Fortunata, Verdelli, Chiara, Piccoli, Marco, Ghiroldi, Andrea, Creo, Pasquale, Colombo, Alessio, Valisi, Massimiliano, Margiotta, Elisabetta, Panella, Rossella, Costa, Elena
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2014
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4094445/
https://ncbi.nlm.nih.gov/pubmed/24986359
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2369-15-102
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