title: Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient.
authors.affiliation: Department of Neurology, Ohio State University, Columbus 43210.
authors.forename: A V
authors.initials: AV
authors.lastname: Winnard
authors.forename: Y
authors.initials: Y
authors.lastname: Jia-Hsu
authors.forename: R A
authors.initials: RA
authors.lastname: Gibbs
authors.forename: J R
authors.initials: JR
authors.lastname: Mendell
authors.forename: A H
authors.initials: AH
authors.lastname: Burghes
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D012326:RNA Splicing; D012333:RNA, Messenger / Q000235:genetics
chemical_list: D012333:RNA, Messenger; D004247:DNA