Article
Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele.
BMC nephrology - 15 Mar 2013
Reiterová Jana, Štekrová Jitka, Merta Miroslav, Kotlas Jaroslav, Elišáková Veronika, Lněnička Petr, Korabečná Marie, Kohoutová Milada, Tesař Vladimír
Abstract excerpt
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common form of inherited kidney disease that results in renal failure. ADPKD is a systemic disorder with cysts and connective tissue abnormalities involving many organs. ADPKD caused by mutations in PKD1 gene is significantly more severe than the cases caused by PKD2 gene mutations. The large intra-familial variability of ADPKD...
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