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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Publicat a:Eur J Hum Genet
Autors principals: 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
Idioma:Inglês
Publicat: Springer International Publishing 2021
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Article
Accés en línia: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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