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

Internet

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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