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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:BMC Nephrol
Päätekijät: Ali, Hamad, Hussain, Naser, Naim, Medhat, Zayed, Mohamed, Al-Mulla, Fahd, Kehinde, Elijah O, Seaburg, Lauren M, Sundsbak, Jamie L, Harris, Peter C
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2015
Aiheet:
Research Article
Linkit: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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