A novel heterozygous PKD1 variant causing alternative splicing in a Chinese family with autosomal dominant polycystic kidney disease

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is mainly caused by pathogenic variants of PKD1 and PKD2. Compared to PKD2‐related patients, patients with PKD1 pathogenic variants have more severe symptoms, present a gradual decline in renal function, and finally progress to end‐sta...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhao, Qianying, Tan, Yu, Xiao, Xiao, Xiang, Qinqin, Yang, Mei, Wang, He, Liu, Shanling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10422069/
https://www.ncbi.nlm.nih.gov/pubmed/37272738
http://dx.doi.org/10.1002/mgg3.2217

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10422069/
https://www.ncbi.nlm.nih.gov/pubmed/37272738
http://dx.doi.org/10.1002/mgg3.2217

Ejemplares similares