C Angelini, A C Nascimbeni. Show Affiliations »
Abstract
Entities: Chemical
Mesh: See more » AdolescentAdultAge of OnsetBase SequenceDNA/geneticsDNA Mutational AnalysisFrameshift MutationGlycogen Storage Disease Type II/enzymologyGlycogen Storage Disease Type II/geneticsGlycogen Storage Disease Type II/pathologyHumansMaleMiddle AgedMuscle, Skeletal/pathologyMutationRNA Splicing/geneticsSequence Deletionalpha-Glucosidases/deficiencyalpha-Glucosidases/genetics
Substances: See more » DNAGAA protein, humanalpha-Glucosidases
Year: 2007 PMID: 17470141 DOI: 10.1111/j.1399-0004.2007.00785.x
Source DB: PubMed Journal: Clin Genet ISSN: 0009-9163 Impact factor: 4.438