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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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Bibliografische gegevens
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2006
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Online toegang: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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