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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Detalles Bibliográficos
Autores principales: Ali, Hamad, Hussain, Naser, Naim, Medhat, Zayed, Mohamed, Al-Mulla, Fahd, Kehinde, Elijah O, Seaburg, Lauren M, Sundsbak, Jamie L, Harris, Peter C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4357204/
https://www.ncbi.nlm.nih.gov/pubmed/25880449
http://dx.doi.org/10.1186/s12882-015-0015-7

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