Title | Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient. |
Publication Type | Journal Article |
Year of Publication | 1992 |
Authors | Winnard, AV, Jia-Hsu, Y, Gibbs, RA, Mendell, JR, Burghes, AH |
Journal | Hum Mol Genet |
Volume | 1 |
Issue | 8 |
Pagination | 645-6 |
Date Published | 1992 Nov |
ISSN | 0964-6906 |
Keywords | Amino Acid Sequence, Base Sequence, DNA, Female, Humans, Molecular Sequence Data, Muscular Dystrophies, Mutation, Polymerase Chain Reaction, RNA Splicing, RNA, Messenger |
DOI | 10.1093/hmg/1.8.645 |
Alternate Journal | Hum Mol Genet |
PubMed ID | 1301174 |
Grant List | R29-AR40015-01 / AR / NIAMS NIH HHS / United States |