Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49–51
Santos, Rosário, Oliveira, Jorge, Vieira, Emília, Coelho, Teresa, Carneiro, António Leite, Evangelista, Teresinha, Dias, Cristina, Fortuna, Ana, Geraldo, Argemiro, Negrão, Luís, Guimarães, António, BrVolume:
55
Langue:
english
Journal:
Journal of Human Genetics
DOI:
10.1038/jhg.2010.60
Date:
August, 2010
Fichier:
PDF, 350 KB
english, 2010