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An Efficient and Comprehensive Strategy for Genetic Diagnostics of Polycystic Kidney Disease
Renal cysts are clinically and genetically heterogeneous conditions. Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent life-threatening genetic disease and mainly caused by mutations in PKD1. The presence of six PKD1 pseudogenes and tremendous allelic heterogeneity make molec...
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| 出版年: | PLoS One |
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| 主要な著者: | , , , , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Public Library of Science
2015
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4315576/ https://ncbi.nlm.nih.gov/pubmed/25646624 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0116680 |
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