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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2021
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Article
Acesso em linha: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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