A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with Autosomal Dominant Polycystic Kidney Disease

BACKGROUND: Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common form of Polycystic Kidney Disease (PKD) and occurs at a frequency of 1/800 to 1/1000 affecting all ethnic groups worldwide. ADPKD shows significant intrafamilial phenotypic variability in the rate of disease progress...

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Detalhes bibliográficos
Publicado no:BMC Nephrol
Main Authors: Ali, Hamad, Hussain, Naser, Naim, Medhat, Zayed, Mohamed, Al-Mulla, Fahd, Kehinde, Elijah O, Seaburg, Lauren M, Sundsbak, Jamie L, Harris, Peter C
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4357204/
https://ncbi.nlm.nih.gov/pubmed/25880449
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12882-015-0015-7
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