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Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient.

TitleIdentification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient.
Publication TypeJournal Article
Year of Publication1992
AuthorsWinnard, A. V., Jia-Hsu Y., Gibbs R. A., Mendell J. R., and Burghes A. H.
JournalHuman molecular genetics
Volume1
Issue8
Pagination645-6
Date Published1992 Nov
ISSN0964-6906
KeywordsAmino Acid Sequence, Base Sequence, DNA, Female, Humans, Molecular Sequence Data, Muscular Dystrophies, Mutation, Polymerase Chain Reaction, RNA Splicing, RNA, Messenger
DOI10.1038/ng0396-288
Alternate JournalHum. Mol. Genet.


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