Exon Skipping Mutation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** Any change in the nucleotide sequence of a gene that results in the loss of transcription of one or more exons within a gene. Often downstream exons are still present in the transcript and translated into the product. Exon skipping is associated either with deletions that remove entire exons or with splice-site variations.

**Synonyms:** - Exon Skipping