Identification of Three Novel Frameshift Mutations in the PKD1 Gene in Iranian Families with Autosomal Dominant Polycystic Kidney Disease Using Efficient Targeted Next-Generation Sequencing

Identification of Three Novel Frameshift Mutations in the PKD1 Gene in Iranian Families with Autosomal Dominant Polycystic Kidney Disease Using Efficient Targeted Next-Generation Sequencing

Background/Aims: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common inherited cystic kidney diseases caused by mutations in two large multi-exon genes, PKD1 and PKD2. High allelic heterogeneity and duplication of PKD1 exons 1–32 as six pseudo genes on chromosome 16 compli...

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Bibliographic Details
Main Authors: Fariba Ranjzad, Nasser Aghdami, Ahmad Tara, Marzieh Mohseni, Reza Moghadasali, Abbas Basiri
Format: Article
Language:English
Published: Karger Publishers 2018-03-01
Series:Kidney & Blood Pressure Research
Subjects:
Pkd1
Autosomal dominant polycystic kidney disease
Targeted NGS
Novel mutations
Online Access:https://www.karger.com/Article/FullText/488471

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https://www.karger.com/Article/FullText/488471

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