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...
Κύριοι συγγραφείς: | 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 |
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Μορφή: | Journal article |
Γλώσσα: | English |
Έκδοση: |
2005
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Παρόμοια τεκμήρια
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Characterization of a major modifier locus for polycystic kidney disease (Modpkdr1) in the Han:SPRD(cy/+) rat in a region conserved with a mouse modifier locus for Alport syndrome.
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Report on rat chromosome 4
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Genomic organization and mutation screening of the human ortholog of Pkdr1 associated with polycystic kidney disease in the rat.
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A high-resolution consensus linkage map of the rat, integrating radiation hybrid and genetic maps.
ανά: Bihoreau, M, κ.ά.
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