title: A case of pulmonary alveolar microlithiasis with an intragenetic deletion in SLC34A2 detected by a genome-wide SNP study.
abstract: 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.
authors.affiliation: Department of Respiratory Medicine, Omihachiman Community Medical Center, Omihachiman, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Ishihara
authors.forename: K
authors.initials: K
authors.lastname: Hagiwara
authors.forename: K
authors.initials: K
authors.lastname: Zen
authors.lastname: Huqun
authors.forename: Y
authors.initials: Y
authors.lastname: Hosokawa
authors.forename: A
authors.initials: A
authors.lastname: Natsuhara