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

BMC Nephrology

Volumn 15, Issue 1, 2014, Pages

  Valaperta, Rea ^a   Rizzo, Vittoria ^b   Lombardi, Fortunata ^a   Verdelli, Chiara ^a   Piccoli, Marco ^a   Ghiroldi, Andrea ^a   Creo, Pasquale ^a   Colombo, Alessio ^c   Valisi, Massimiliano ^c   Margiotta, Elisabetta ^d   Panella, Rossella ^a   Costa, Elena ^a  

^a IRCCS POLICLINICO SAN DONATO   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

^c Fleming Research   (Italy)

^d FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

Author keywords

APRT deficiency; Crystalline nephropathy; Renal failure

Indexed keywords

ALLOPURINOL; AMINO ACID; CREATININE; CYTOSINE; MUTANT PROTEIN; THYMINE; UREA; ADENINE PHOSPHORIBOSYLTRANSFERASE; STOP CODON;

ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; ADENINE PHOSPHORIBOSYLTRANSFERASE GENE; ADULT; AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOSYNTHESIS; CASE REPORT; CREATININE BLOOD LEVEL; DRUG DOSE INCREASE; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME KINETICS; ENZYME STRUCTURE; EXON; GENE; HUMAN; HUMAN TISSUE; KIDNEY BIOPSY; KIDNEY DISEASE; MIDDLE AGED; NONSENSE MUTATION; STOP CODON; STRUCTURE ANALYSIS; UREA BLOOD LEVEL; CHEMISTRY; DEFICIENCY; GENETICS; MALE; METABOLISM, INBORN ERRORS; PROTEIN SECONDARY STRUCTURE; UROLITHIASIS;

ADENINE PHOSPHORIBOSYLTRANSFERASE; CODON, NONSENSE; HUMANS; MALE; METABOLISM, INBORN ERRORS; MIDDLE AGED; PROTEIN STRUCTURE, SECONDARY; UROLITHIASIS;

EID: 84904357328     PISSN: None     EISSN: 14712369     Source Type: Journal    
DOI: 10.1186/1471-2369-15-102     Document Type: Article

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