Identification of missense and synonymous variants in Iranian patients suffering from autosomal dominant polycystic kidney disease

Identification of missense and synonymous variants in Iranian patients suffering from autosomal dominant polycystic kidney disease

Abstract Background Autosomal dominant polycystic kidney disease (ADPKD), the predominant type of inherited kidney disorder, occurs due to PKD1 and PKD2 gene mutations. ADPKD diagnosis is made primarily by kidney imaging. However, molecular genetic analysis is required to confirm the diagnosis. It i...

Full description

Bibliographic Details
Main Authors: Fatemeh Khadangi, Adam Torkamanzehi, Mohammad Amin Kerachian
Format: Article
Language:English
Published: BMC 2020-09-01
Series:BMC Nephrology
Subjects:
Autosomal dominant polycystic kidney disease
PKD1
Mutational analysis
Iranian
Online Access:http://link.springer.com/article/10.1186/s12882-020-02069-0

Internet

http://link.springer.com/article/10.1186/s12882-020-02069-0

Similar Items