Article
Modifier genes play a significant role in the phenotypic expression of PKD1.
Kidney international - 1 Apr 2005
Fain Pamela R, McFann Kimberly K, Taylor Matthew R G, Tison Maryellyn, Johnson Ann M, Reed Berenice, Schrier Robert W
Abstract excerpt
BACKGROUND: Polycystic kidney disease type 1 (PKD1) is characterized by extreme variation in the severity and progression of renal and extrarenal phenotypes. There are significant familial phenotype differences; but it is not clear if this is due to differences in PKD1 mutations, differences in genetic background, or both. METHODS: A total of 315 affected relatives (83 PKD1 families) without end-stage renal...
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