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

Object Details

• Location: Deutsche Nationalbibliothek Frankfurt am Main
• ISSN: 1724-6059
• Extent: Online-Ressource
• Language: Englisch
• Notes: online resource.

References and Relationships

• Bibliographic citation: Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation ; day:8 ; month:5 ; year:2021 ; pages:1-20 ; Journal of nephrology ; (8.5.2021), 1-20

Contributors, Places and Time

• Creator: Zacchia, Miriam ; Blanco, Francesca Del Vecchio ; Trepiccione, Francesco ; Blasio, Giancarlo ; Torella, Annalaura ; Melluso, Andrea ; Capolongo, Giovanna ; Pollastro, Rosa Maria ; Piluso, Giulio ; Iorio, Valentina Di ; Simonelli, Francesca ; Viggiano, Davide ; Perna, Alessandra ; Nigro, Vincenzo ; Capasso, Giovambattista
• Contributor: SpringerLink (Online service)

Further information

• DOI: 10.1007/s40620-021-01048-4
• URN: urn:nbn:de:101:1-2021091106534769702336
• Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
• Last update: 15.08.2025, 7:28 AM CEST