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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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Detalles Bibliográficos
Autores principales: 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
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2006
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1434729/
https://www.ncbi.nlm.nih.gov/pubmed/16430766
http://dx.doi.org/10.1186/1471-2350-7-6