Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles

Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of kidney failure in adult life. Rarely, ADPKD can be diagnosed in utero or in infancy, and the genetic mechanism underlying such severe presentation has been shown to be related to reduced gene dosage. Biallelic P...

Descripción completa

Detalles Bibliográficos
Autores principales: Ambrosini, Enrico, Montanari, Francesca, Cristalli, Carlotta Pia, Capelli, Irene, La Scola, Claudio, Pasini, Andrea, Graziano, Claudio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10298634/
https://www.ncbi.nlm.nih.gov/pubmed/37372410
http://dx.doi.org/10.3390/genes14061230

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10298634/
https://www.ncbi.nlm.nih.gov/pubmed/37372410
http://dx.doi.org/10.3390/genes14061230

Ejemplares similares