Absence of an Intron Splicing Silencer in Porcine Smn1 Intron 7 Confers Immunity to the Exon Skipping Mutation in Human SMN2

Spinal Muscular Atrophy is caused by homozygous loss of SMN1. All patients retain at least one copy of SMN2 which produces an identical protein but at lower levels due to a silent mutation in exon 7 which results in predominant exclusion of the exon. Therapies targeting the splicing of SMN2 exon 7 h...

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Bibliographic Details
Main Authors: Doktor, Thomas Koed, Schrøder, Lisbeth Dahl, Andersen, Henriette Skovgaard, Brøner, Sabrina, Kitewska, Anna, Sørensen, Charlotte Brandt, Andresen, Brage Storstein
Format: Artigo
Language:Inglês
Published: Public Library of Science 2014
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4043917/
https://ncbi.nlm.nih.gov/pubmed/24892836
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0098841
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