Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease – a case report

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disorder, leading to end stage renal failure and kidney transplantation in its most serious form. The severity of the disease’s manifestation depends on the genetic determination of ADPKD. The huge v...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:BMC Nephrol
Egile Nagusiak: Elisakova, Veronika, Merta, Miroslav, Reiterova, Jana, Baxova, Alica, Kotlas, Jaroslav, Hirschfeldova, Katerina, Obeidova, Lena, Tesar, Vladimir, Stekrova, Jitka
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2018
Gaiak:
Case Report
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6032778/
https://ncbi.nlm.nih.gov/pubmed/29973168
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12882-018-0978-2
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