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

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. No effect...

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Detalles Bibliográficos
Autores principales: Jönsson, Åsa Lina M., Hernando, Nati, Knöpfel, Thomas, Mogensen, Susie, Bendstrup, Elisabeth, Hilberg, Ole, Christensen, Jane Hvarregaard, Simonsen, Ulf, Wagner, Carsten A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9019944/
https://www.ncbi.nlm.nih.gov/pubmed/35443721
http://dx.doi.org/10.1186/s40246-022-00387-y

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