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

30 Jul 2019

Abstract excerpt

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 comprehensive screening have been published. METHODS: In this study, 441 patients clinically suspected of having AS were divided into...

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PMID: 31364286
DOI: 10.1002/mgg3.883

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