A case of pulmonary alveolar microlithiasis occurring in an inbred family is presented. A genome-wide analysis of the patient's genomic DNA using a high-density single nucleotide polymorphism (SNP) array revealed a small intragenetic mutation at SLC34A2. The results suggest that the high-density SNP array has the power to identify a recessive disease gene(s) even in the analysis of only a single inbred patient.
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Ishihara et al. (2009) studied this question.
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