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American Journal of Physiology - Renal Physiology 299(5) 1078-1086 2010年11月 [査読有り]
Polycystic kidney disease (PKD) in Han:SPRD Cy rats is caused by a missense mutation in Anks6 (also called Pkdr1), leading to an R823W substitution in SamCystin, a protein that contains ankyrin repeats and a sterile alpha motif (SAM). The cellular...