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Article

Eight novel variants in theSLC34A2gene in pulmonary alveolar microlithiasis

12 Dec 2019

Abstract excerpt

Background Pulmonary alveolar microlithiasis (PAM) is caused by genetic variants in theSLC34A2gene, which encodes the sodium-dependent phosphate transport protein 2B (NaPi-2b). PAM is characterised by deposition of calcium phosphate concretions (microliths) in the alveoli leading to pulmonary dysfunction. The variant spectrum ofSLC34A2has not been well investigated and it is not yet known whether a...

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PMID: 31831582
DOI: 10.1183/13993003.00806-2019

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