Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency

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...

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Bibliographic Details
Published in:Eur J Hum Genet
Main Authors: 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
Format: Artigo
Language:Inglês
Published: Springer International Publishing 2021
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC8298615/
https://ncbi.nlm.nih.gov/pubmed/33707627
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-00805-6
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