%0 Journal Article %J Journal of Human Genetics %D 2010 %T Private dysferlin exon skipping mutation (c.5492G > A) with a founder effect reveals further alternative splicing involving exons 49-51 %A Santos, R. %A Oliveira, J. %A Vieira, E. %A Coelho, T. %A Carneiro, A.L. %A Evangelista, T. %A Dias, C. %A Fortuna, A. %A Geraldo, A. %A Negro, L. %A Guimares, A. %A Bronze-da-Rocha, E. %B Journal of Human Genetics %V 55 %P 546 - 549 %8 2010/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-77957573173&partnerID=40&md5=56e960630ed13994451942d8518737d3 %N 8