Impaired phosphate transport in SLC34A2 variants in patients with pulmonary alveolar microlithiasis

Impaired phosphate transport in SLC34A2 variants in patients with pulmonary alveolar microlithiasis

Abstract Background Variants in SLC34A2 encoding the sodium-dependent phosphate transport protein 2b (NaPi-IIb) cause the rare lung disease pulmonary alveolar microlithiasis (PAM). PAM is characterised by the deposition of calcium-phosphate concretions in the alveoli usually progressing over time. N...

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Bibliographic Details
Main Authors: Åsa Lina M. Jönsson, Nati Hernando, Thomas Knöpfel, Susie Mogensen, Elisabeth Bendstrup, Ole Hilberg, Jane Hvarregaard Christensen, Ulf Simonsen, Carsten A. Wagner
Format: Article
Language:English
Published: BMC 2022-04-01
Series:Human Genomics
Subjects:
Pulmonary alveolar microlithiasis (PAM)
Sodium-dependent phosphate transport protein 2B, NaPi-IIb
Sodium-dependent phosphate transport protein 2B, NaPi-2b
SLC34A2
SLC34A2 variants
SLC34A2 mutations
Online Access:https://doi.org/10.1186/s40246-022-00387-y

Internet

https://doi.org/10.1186/s40246-022-00387-y

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