Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease

Autosomal dominant polycystic kidney disease (ADPKD) caused by mutations in PKD1 is significantly more severe than PKD2. Typically, ADPKD presents in adulthood but is rarely diagnosed in utero with enlarged, echogenic kidneys. Somatic mutations are thought crucial for cyst development, but gene dosa...

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Detalhes bibliográficos
Main Authors: Rossetti, Sandro, Kubly, Vickie J., Consugar, Mark B., Hopp, Katharina, Roy, Sushmita, Horsley, Sharon W., Chauveau, Dominique, Rees, Lesley, Barratt, T. Martin, Hoff, William G. van't, Niaudet, W. Patrick, Torres, Vicente E., Harris, Peter C.
Formato: Artigo
Idioma:Inglês
Publicado em: 2009
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2813773/
https://ncbi.nlm.nih.gov/pubmed/19165178
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ki.2008.686
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