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Updated: Oct 15, 2026

Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides
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Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides

Published on: May 7, 2020

Three different premature stop codons lead to skipping of exon 7 in neurofibromatosis type I patients

K Wimmer1, M Eckart, P F Stadler

  • 1Institut für Medizinische Biologie, Universität Wien, Vienna, Austria. katharina.wimmer@univie.ac.at

Human Mutation
|June 30, 2000
PubMed

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Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
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Mutations

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Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
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While point mutations are changes in a single nucleotide in...
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