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