Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD

Abstract Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic cause of kidney failure and is primarily associated with PKD1 or PKD2. Approximately 10% of patients remain undiagnosed after standard genetic testing. We aimed to utilise short and long-read genome sequencing...

Descripció completa

Dades bibliogràfiques

Autors principals:	Yvonne Hort, Patricia Sullivan, Laura Wedd, Lindsay Fowles, Igor Stevanovski, Ira Deveson, Cas Simons, Andrew Mallett, Chirag Patel, Timothy Furlong, Mark J. Cowley, John Shine, Amali Mallawaarachchi
Format:	Artigo
Idioma:	Inglês
Publicat:	Nature Portfolio 2023-07-01
Col·lecció:	npj Genomic Medicine
Accés en línia:	https://doi.org/10.1038/s41525-023-00362-z
Etiquetes:	Afegir etiqueta Sense etiquetes, Sigues el primer a etiquetar aquest registre!