Missense mutation in sterile alpha motif of novel protein SamCystin is associated with polycystic kidney disease in (cy/+) rat.

Missense mutation in sterile alpha motif of novel protein SamCystin is associated with polycystic kidney disease in (cy/+) rat.

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 polycys...

Ausführliche Beschreibung

Bibliographische Detailangaben
Hauptverfasser: Brown, J, Bihoreau, M, Hoffmann, S, Kränzlin, B, Tychinskaya, I, Obermüller, N, Podlich, D, Boehn, SN, Kaisaki, P, Megel, N, Danoy, P, Copley, R, Broxholme, J, Witzgall, R, Lathrop, M, Gretz, N, Gauguier, D
Format: Journal article
Sprache:English
Veröffentlicht: 2005

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