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Article

Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis.

American journal of human genetics - 1 Oct 2006

Corut Ayse, Senyigit Abdurrahman, Ugur Sibel Aylin, Altin Sedat, Ozcelik Ugur, Calisir Haluk, Yildirim Zeki, Gocmen Ayhan, Tolun Aslihan

Abstract excerpt

Pulmonary alveolar microlithiasis (PAM) is a rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. We first identified a PAM locus by homozygosity mapping to 4p15, then identified, by a candidate-gene approach, the gene responsible for the disease as SLC34A2 (the type IIb sodium-phosphate cotransporter gene), which is involved in phosphate homeostasis in several...

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Identifiers

PMID: 16960801
DOI: 10.1086/508263
PMCID: PMC1592565

Genes

PAM

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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