Article
Polycystin-1 expression in PKD1, early-onset PKD1, and TSC2/PKD1 cystic tissue.
Kidney international - 1 Oct 1999
Ong A C, Harris P C, Davies D R, Pritchard L, Rossetti S, Biddolph S, Vaux D J, Migone N, Ward C J
Abstract excerpt
BACKGROUND: The mutational mechanism responsible for cyst formation in polycystic kidney disease 1 gene (PKD1) remains controversial, with data indicating a two-hit mechanism, but also evidence of polycystin-1 expression in cystic tissue. METHODS: To investigate this apparent paradox, we analyzed polycystin-1 expression in cystic renal or liver tissue from 10 patients with truncating PKD1 mutations (including one...
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