Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient.
Winnard
A V
AV
Department of Neurology, Ohio State University, Columbus 43210.
Jia-Hsu
Y
Y
Gibbs
R A
RA
Mendell
J R
JR
Burghes
A H
AH
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
D012333:RNA, Messenger; D004247:DNA