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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8298615/
https://www.ncbi.nlm.nih.gov/pubmed/33707627
http://dx.doi.org/10.1038/s41431-020-00805-6

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