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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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Detalhes bibliográficos
Main Authors: Schäfer, Tobias, Pütz, Michael, Lienkamp, Soeren, Ganner, Athina, Bergbreiter, Astrid, Ramachandran, Haribaskar, Gieloff, Verena, Gerner, Martin, Mattonet, Christian, Czarnecki, Peter G., Sayer, John A., Otto, Edgar A., Hildebrandt, Friedhelm, Kramer-Zucker, Albrecht, Walz, Gerd
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2008
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Acesso em linha: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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