Santos, Rosário

Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51. [electronic resource] - Journal of human genetics Aug 2010 - 546-9 p. digital

Publication Type: Journal Article

1435-232X

10.1038/jhg.2010.60 doi


Adolescent
Adult
Alternative Splicing
Child
Dysferlin
Exons--genetics
Founder Effect
Humans
Male
Membrane Proteins--genetics
Middle Aged
Muscle Proteins--genetics
Muscular Diseases--genetics
Muscular Dystrophies, Limb-Girdle--genetics
Mutation--genetics
Phenotype
Young Adult