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Clinical Characterization and NPHP1 Mutations in Nephronophthisis and Associated Ciliopathies: A Single Center Experience

Nephronophthisis (NPHP) is a recessive disorder of the kidney that is the leading genetic cause of end-stage renal failure in children. Egypt is a country with a high rate of consanguineous marriages; yet, only a few studies have investigated the clinical and molecular characteristics of NPHP and re...

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Hlavní autoři: Soliman, Neveen A., Hildebrandt, Friedhelm, Otto, Edgar A., Nabhan, Marwa M., Allen, Susan J., Badr, Ahmed M., Sheba, Maha, Fadda, Sawsan, Gawdat, Ghada, El-Kiky, Hassan
Médium: Artigo
Jazyk:Inglês
Vydáno: 2012
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4154542/
https://ncbi.nlm.nih.gov/pubmed/22982934
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/1319-2442.100968
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