Article
Location of mutations within the PKD2 gene influences clinical outcome.
Kidney international - 1 Apr 2000
Hateboer N, Veldhuisen B, Peters D, Breuning M H, San-Millán J L, Bogdanova N, Coto E, van Dijk M A, Afzal A R, Jeffery S, Saggar-Malik A K, Torra R, Dimitrakov D, Martinez I, de Castro S S, Krawczak M, Ravine D
Abstract excerpt
BACKGROUND: Since the cloning of the gene for autosomal dominant polycystic kidney disease type 2 (PKD2), approximately 40 different mutations of that gene have been reported to be associated with the disease. The relationship between the PKD2 genotype and phenotype, however, remains unclear. METHODS: Detailed clinical information was collected for PKD2 families in which the underlying mutation had been...
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