Article

Detection of Single Nucleotide and Copy Number Variants in the Fabry Disease-associated GLA Gene Using Nanopore Sequencing

2021-06-04

Abstract excerpt

<h4>Introduction: </h4> More than one thousand variants have been described in the GLA gene. Some intronic variants and copy number variants in GLA can cause Fabry disease but will not be detected by classical Sanger sequence. <h4>Aims: </h4>: We aimed to design and validate a method for sequencing the GLA gene using long read Oxford Nanopore sequencing technology. <h4>Methods: </h4>: Twelve Fabry patients were bl...

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Literature Corpus work: 13dcebde-42b7-584c-8d6c-8a95bd7f85ad
DOI: 10.21203/rs.3.rs-579267/v1

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