PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disorder caused by mutations in at least two different loci. Prior to performing mutation screening, if DNA samples of sufficient number of family members are available, it is worthwhile to assign the gen...

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Autori principali: Vouk, Katja, Strmecki, Lana, Stekrova, Jitka, Reiterova, Jana, Bidovec, Matjaz, Hudler, Petra, Kenig, Anton, Jereb, Simona, Zupanic-Pajnic, Irena, Balazic, Joze, Haarpaintner, Guido, Leskovar, Bostjan, Adamlje, Anton, Skoflic, Antun, Dovc, Reina, Hojs, Radovan, Komel, Radovan
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2006
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1434729/
https://ncbi.nlm.nih.gov/pubmed/16430766
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-7-6
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