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Missense Mutation in Sterile α Motif of Novel Protein SamCystin is Associated with Polycystic Kidney Disease in (cy/+) Rat

Brown, Joanna H. ; Bihoreau, Marie-Thére[Combining Grave Accent]se ; Hoffmann, Sigrid ; Kra[Combining Diaeresis]nzlin, Bettina ; Tychinskaya, Iulia ; Obermu[Combining Diaeresis]ller, Nicholas ; Podlich, Dirk ; Boehn, Suzanne N. ; Kaisaki, Pamela J. ; Megel, Natalia ; Danoy, Patrick ; Copley, Richard R. ; Broxholme, John ; Witzgall, Ralph ; Lathrop, Mark ; Gretz, Norbert ; Gauguier, Dominique



Zusammenfassung

Autosomal dominant polycystic kidney disease (PKD) is the most common genetic disease that leads to kidney failure in humans. In addition to the known causative genes PKD1 and PKD2, there are mutations that result in cystic changes in the kidney, such as nephronophthisis, autosomal recessive polycystic kidney disease, or medullary cystic kidney disease. Recent efforts to improve the understanding ...

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