Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation

BACKGROUND: Genetic testing of patients with inherited kidney diseases has emerged as a tool of clinical utility by improving the patients’ diagnosis, prognosis, surveillance and therapy. METHODS: The present study applied a Next Generation Sequencing (NGS)-based panel, named NephroPlex, testing 115...

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Detalles Bibliográficos
Autores principales: Zacchia, Miriam, Blanco, Francesca Del Vecchio, Trepiccione, Francesco, Blasio, Giancarlo, Torella, Annalaura, Melluso, Andrea, Capolongo, Giovanna, Pollastro, Rosa Maria, Piluso, Giulio, Di Iorio, Valentina, Simonelli, Francesca, Viggiano, Davide, Perna, Alessandra, Nigro, Vincenzo, Capasso, Giovambattista
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8610957/
https://www.ncbi.nlm.nih.gov/pubmed/33964006
http://dx.doi.org/10.1007/s40620-021-01048-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8610957/
https://www.ncbi.nlm.nih.gov/pubmed/33964006
http://dx.doi.org/10.1007/s40620-021-01048-4

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