Article
Sanger and Next-Generation Sequencing of AAT.
Methods in molecular biology (Clifton, N.J.) - 1 Jan 2024
Barzon Valentina, Ferrarotti Ilaria, Ottaviani Stefania
Abstract excerpt
Sequencing of DNA is normally the final procedure carried out to determine the actual pathogenic variants when the techniques used for genotyping are unable to provide complete identification of both AAT alleles. Gene sequencing of complete SERPINA1 gene by using the Sanger method or next-generation sequencing (NGS) is crucial to enable correct diagnosis in patients with alpha1-antitrypsin deficiency caused by...
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