Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD

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 and RNA...

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Detalles Bibliográficos
Autores principales: Hort, Yvonne, Sullivan, Patricia, Wedd, Laura, Fowles, Lindsay, Stevanovski, Igor, Deveson, Ira, Simons, Cas, Mallett, Andrew, Patel, Chirag, Furlong, Timothy, Cowley, Mark J., Shine, John, Mallawaarachchi, Amali
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10328916/
https://www.ncbi.nlm.nih.gov/pubmed/37419908
http://dx.doi.org/10.1038/s41525-023-00362-z

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