Cargando…
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...
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 |
Ejemplares similares
-
Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease – a case report
por: Elisakova, Veronika, et al.
Publicado: (2018) -
Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease
por: Obeidova, Lena, et al.
Publicado: (2014) -
New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease
por: Stekrova, Jitka, et al.
Publicado: (2009) -
Slovenian population data for five new European Standard Set Short tandem repeat loci and SE33 locus
por: Zupanič Pajnič, Irena, et al.
Publicado: (2014) -
Pkd1 and Pkd2 Are Required for Normal Placental Development
por: Garcia-Gonzalez, Miguel A., et al.
Publicado: (2010)