Nanopore-Based Strategy for Single-Nucleotide Mutation Detection in Sickle Cell Disease Using Anthracycline Probes.

Abstract excerpt

Sickle cell disease (SCD) is an autosomal recessive genetic disease that is caused by a single nucleotide mutation from adenine to thymine in the β-bead protein gene (HBB gene). Currently, there is no completely effective cure for SCD, and management is primarily to prevent. Therefore, timely detection of the genotype is crucial for subsequent diagnosis. In this study, we developed a rapid and straightforward...

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