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

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

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_b26c4688d07040dca763b1684c455225

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

About this item

Full title

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

Publisher

England: BioMed Central Ltd

Journal title

Human Genomics, 2022-04, Vol.16 (1), p.13-11, Article 13

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

Scope and Contents

Contents

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 effective treatment is available. So far, 30 allelic variants in pat...

Alternative Titles

Full title

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

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_b26c4688d07040dca763b1684c455225

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_b26c4688d07040dca763b1684c455225

Other Identifiers

ISSN

1479-7364,1473-9542

E-ISSN

1479-7364

DOI

10.1186/s40246-022-00387-y

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