Resolution of the genetic base in cases with rare diseases and no mutation detected

Nanopore sequencing has allowed us to resolve the genetic base of 3 cases with a rare disorder (antithrombin deficiency) that lacked of diagnosis after different molecular techniques.

We have detected an insertion of a retrotransposon (mobile element) in the gene responsible for antithrombin deficiency.

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https://pubmed.ncbi.nlm.nih.gov/35764313/