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Decipher non-canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic

Rosangela Ferese1, Simona Scala1, Antonio Suppa1,2

  • 1IRCCS Neuromed, Pozzilli, Italy.

Clinical Genetics
|May 7, 2022
PubMed

Abstract:

Flowchart showing the molecular approach used to decipher the non-canonical splicing mutations.

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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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