Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting

Loss-of-function mutations of SLC34A3 represent an established cause of a distinct renal phosphate wasting disorder termed hereditary hypophosphatemic rickets with hypercalciuria (HHRH). SLC34A3 encodes the renal phosphate transporter NaPi2c expressed at the apical brush border of proximal renal tub...

Full description

Saved in:
Bibliographic Details
Published in:Urolithiasis
Main Authors: Schönauer, Ria, Petzold, Friederike, Lucinescu, Wilhelmina, Seidel, Anna, Müller, Luise, Neuber, Steffen, Bergmann, Carsten, Sayer, John A., Werner, Andreas, Halbritter, Jan
Format: Artigo
Language:Inglês
Published: Springer Berlin Heidelberg 2019
Subjects:
Original Paper
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6825645/
https://ncbi.nlm.nih.gov/pubmed/30798342
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00240-019-01116-2
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items