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GENATLAS PHENOTYPE

last update : 12/06/2006

Symbol	APRT
Location	16q24.3
Name	urolithiasis
Corresponding gene	APRT
Main clinical features	characteried by 2.5 dihydroxyadenine precipitation and stone formation may be asymptomatic or heading to renal failure, controlled with allopurinol, exceptional case(s) in compound heterozygotes
Genetic determination	autosomal dominant
Function/system disorder	kidney and urinary tract
Type	disease

Gene product

Name	adenine phosphoribosyltransferase