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Mutations in SLC34A2 Cause Pulmonary Alveolar Microlithiasis and Are Possibly Associated with Testicular Microlithiasis

Pulmonary alveolar microlithiasis (PAM) is a rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. We first identified a PAM locus by homozygosity mapping to 4p15, then identified, by a candidate-gene approach, the gene responsible for the disease as SLC3...

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Hlavní autoři: Corut, Ayse, Senyigit, Abdurrahman, Ugur, Sibel Aylin, Altin, Sedat, Ozcelik, Ugur, Calisir, Haluk, Yildirim, Zeki, Gocmen, Ayhan, Tolun, Aslihan
Médium: Artigo
Jazyk:Inglês
Vydáno: The American Society of Human Genetics 2006
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1592565/
https://ncbi.nlm.nih.gov/pubmed/16960801
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