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Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles

BACKGROUND: PKHD1 is the main genetic cause of autosomal recessive polycystic kidney disease (ARPKD), a hereditary hepato-renal fibrocystic disorder which is the most important cause of end-stage renal disease during early childhood. ARPKD can also present in adulthood with milder phenotypes. In thi...

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Detalles Bibliográficos
Autores principales:	Molinari, Elisa, Srivastava, Shalabh, Dewhurst, Rebecca M., Sayer, John A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7559414/ https://www.ncbi.nlm.nih.gov/pubmed/33059616 http://dx.doi.org/10.1186/s12882-020-02094-z

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