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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
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 |