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Genetic analysis of autosomal dominant polycystic kidney disease in Iranian families: a combined Sanger and next-generation sequencing study.

Journal of applied genetics - 1 May 2026

Rafiee Maryam, Razipour Masoumeh, Keramatipour Mohammad, Roozbeh Jamshid, Entezam Mona

Abstract excerpt

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disorder, primarily caused by mutations in the PKD1 and PKD2. Genetic testing is valuable for the diagnosis, prognosis, and clinical management of ADPKD. Next-generation sequencing (NGS) techniques can overcome the limitations of traditional Sanger sequencing for the genetic diagnosis of ADPKD. This study included 18 Iranian...

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PMID: 39951171
DOI: 10.1007/s13353-024-00937-1

Genes

PKD1
PKD2

Variants

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