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Genetic and physical interaction between the NPHP5 and NPHP6 gene products
Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease, caused by mutations of at least nine different genes. Several extrarenal manifestations characterize this disorder, including cerebellar defects, situs inversus and retinitis pigmentosa. While the clinical manifestations vary s...
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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: |
Oxford University Press
2008
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2802281/ https://ncbi.nlm.nih.gov/pubmed/18723859 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddn260 |
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