Article
Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.
European journal of human genetics : EJHG - 1 Jul 2021
Runolfsdottir Hrafnhildur L, Sayer John A, Indridason Olafur S, Edvardsson Vidar O, Jensson Brynjar O, Arnadottir Gudny A, Gudjonsson Sigurjon A, Fridriksdottir Run, Katrinardottir Hildigunnur, Gudbjartsson Daniel, Thorsteinsdottir Unnur, Sulem Patrick, Stefansson Kari, Palsson Runolfur
Abstract excerpt
Adenine phosphoribosyltransferase deficiency is a rare, autosomal recessive disorder of purine metabolism that causes nephrolithiasis and progressive chronic kidney disease. The small number of reported cases indicates an extremely low prevalence, although it has been suggested that missed diagnoses may play a role. We assessed the prevalence of APRT deficiency based on the frequency of causally-related APRT...
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