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Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49–51

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Description scientific article published on 10 June 2010
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author: Rosário Santos  Ana Maria Fortuna  Elsa Bronze-Da-Rocha  Teresinha Evangelista  Cristina Dias  Jorge Oliveira 

Publication date June 10, 2010
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