Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele

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 significant...

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Hlavní autoři: Reiterová, Jana, Štekrová, Jitka, Merta, Miroslav, Kotlas, Jaroslav, Elišáková, Veronika, Lněnička, Petr, Korabečná, Marie, Kohoutová, Milada, Tesař, Vladimír
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2013
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3621255/
https://ncbi.nlm.nih.gov/pubmed/23496908
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2369-14-59
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