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, AV, Jia-Hsu, Y, Gibbs, RA, Mendell, JR, Burghes, AH
JournalHum Mol Genet
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
Alternate JournalHum. Mol. Genet.
PubMed ID1301174
Grant ListR29-AR40015-01 / AR / NIAMS NIH HHS / United States