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PDF Availablehttps://doi.org/10.1038/hgv.2016.47
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Cite Journal: Human Genome Variation |  Publication Date: Jan 26, 2017 |
 Citations: 23 |  License type: open-access |
Affiliation: Tottori University
Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disease caused by mutations in SLC34A2 and characterized by intra-alveolar accumulation of microliths. We diagnosed a case of PAM in a 27-year-old Japanese female and identified a novel mutation in SLC34A2 (c.1390 G>C [G464R] in exon 12).
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