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Article

Functional characterization of two naturally occurring mutations in the human sodium-phosphate cotransporter type IIa.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Dec 2003

Virkki Leila V, Forster Ian C, Hernando Nati, Biber Jürg, Murer Heini

Abstract excerpt

UNLABELLED: Mutations in the gene encoding the human sodium-phosphate cotransporter (NPT2), causing reduced phosphate affinity and dominant-negative behavior, were described. We found no evidence of altered kinetics or dominant-negative effects. Thus, the mutations cannot account for the clinical phenotype. INTRODUCTION: Mutations in NPT22a, the gene encoding the sodium-phosphate cotransporter NaPi-IIa, were for...

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PMID: 14672348
DOI: 10.1359/jbmr.2003.18.12.2135

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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