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...

Full beskrivning

Sparad:
Bibliografiska uppgifter
I publikationen:Eur J Hum Genet
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: Springer International Publishing 2021
Ämnen:
Article
Länkar: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
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk