Mutations in the SLC34A2 gene are associated with pulmonary alveolar microlithiasis.


RATIONALE Pulmonary alveolar microlithiasis is an autosomal recessive disorder in which microliths are formed in the alveolar space. OBJECTIVES To identify the responsible gene that causes pulmonary alveolar microlithiasis. METHODS By means of a genomewide single-nucleotide polymorphism analysis using DNA from three patients, we have narrowed the region… (More)