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Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion
Nephronophthisis (NPHP) is an autosomal recessive kidney disease characterized by tubular basement membrane disruption, interstitial infiltration, and tubular cysts. NPHP leads to end-stage renal failure in the first two decades of life and is the most frequent genetic cause of chronic renal failure...
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| 主要な著者: | , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2011
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3342573/ https://ncbi.nlm.nih.gov/pubmed/21258817 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00467-011-1761-9 |
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