Article

Rescue of blood coagulation Factor VIII exon-16 mis-splicing by antisense oligonucleotides

2023-04-01

Abstract excerpt

<h4>ABSTRACT</h4> The human Factor VIII ( F8 ) protein is essential for the blood coagulation cascade and specific F8 mutations cause the rare bleeding disorder Hemophilia A (HA). Here, we investigated the impact of HA-causing single-nucleotide mutations on F8 pre-mRNA splicing. We found that 14/97 (∼14.4%) coding sequence mutations tested in our study induced exon skipping. Splicing patterns of 4/11 (∼36.4%)...

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Literature Corpus work: c27cfb0f-3c75-5b3c-aa75-0a37dedb4a3b
DOI: 10.1101/2023.03.31.535160

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