Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome

Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome

Abstract Background Alport syndrome (AS) is a hereditary disease caused by mutations in COL4A3‐5 genes. Recently, comprehensive genetic analysis has become the first‐line diagnostic tool for AS. However, no reports comparing mutation identification rates between conventional sequencing and comprehen...

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Bibliographic Details
Main Authors: Tomohiko Yamamura, Kandai Nozu, Shogo Minamikawa, Tomoko Horinouchi, Nana Sakakibara, China Nagano, Yuya Aoto, Shinya Ishiko, Koichi Nakanishi, Yuko Shima, Hiroaki Nagase, Rini Rossanti, Ming J. Ye, Yoshimi Nozu, Shingo Ishimori, Naoya Morisada, Hiroshi Kaito, Kazumoto Iijima
Format: Article
Language:English
Published: Wiley 2019-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Alport syndrome
next‐generation sequencing
podocyte‐related gene
targeted exome sequencing
Online Access:https://doi.org/10.1002/mgg3.883

Internet

https://doi.org/10.1002/mgg3.883

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