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Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disorder caused by mutation in either one of two genes, PKD1 and PKD2. High structural and sequence complexity of PKD genes makes the mutational diagnostics of ADPKD challenging. The present study is...

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Detalles Bibliográficos
Autores principales: Obeidova, Lena, Elisakova, Veronika, Stekrova, Jitka, Reiterova, Jana, Merta, Miroslav, Tesar, Vladimir, Losan, Frantisek, Kohoutova, Milada
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3992149/
https://www.ncbi.nlm.nih.gov/pubmed/24694054
http://dx.doi.org/10.1186/1471-2350-15-41