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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Urolithiasis
Prif Awduron: Schönauer, Ria, Petzold, Friederike, Lucinescu, Wilhelmina, Seidel, Anna, Müller, Luise, Neuber, Steffen, Bergmann, Carsten, Sayer, John A., Werner, Andreas, Halbritter, Jan
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Springer Berlin Heidelberg 2019
Pynciau:
Original Paper
Mynediad Ar-lein: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
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