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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Detalhes bibliográficos
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2006
Assuntos:
Research Article
Acesso em linha: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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