A case of pulmonary alveolar microlithiasis with an intragenetic deletion in SLC34A2 detected by a genome-wide SNP study.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 19329736.
- Also identified by DOI 10.1136/thx.2008.102996.
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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.
Medical subject headings
- Calculi
- Lung Diseases
- Polymorphism, Single Nucleotide
- Pulmonary Alveoli
- Sequence Deletion