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Many Genes—One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders
Nephronophthisis (NPHP) is a renal ciliopathy and an autosomal recessive cause of cystic kidney disease, renal fibrosis, and end-stage renal failure, affecting children and young adults. Molecular genetic studies have identified more than 20 genes underlying this disorder, whose protein products are...
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| Publicado no: | Front Pediatr |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Frontiers Media S.A.
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5770800/ https://ncbi.nlm.nih.gov/pubmed/29379777 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2017.00287 |
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