Ontology highlight
ABSTRACT:
SUBMITTER: Flanigan KM
PROVIDER: S-EPMC3724403 | biostudies-literature | 2011 Mar
REPOSITORIES: biostudies-literature
Human mutation 20110301 3
Nonsense mutations are usually predicted to function as null alleles due to premature termination of protein translation. However, nonsense mutations in the DMD gene, encoding the dystrophin protein, have been associated with both the severe Duchenne Muscular Dystrophy (DMD) and milder Becker Muscular Dystrophy (BMD) phenotypes. In a large survey, we identified 243 unique nonsense mutations in the DMD gene, and for 210 of these we could establish definitive phenotypes. We analyzed the reading fr ...[more]