dc.contributor.author | Sharp, N. J. H. | en |
dc.contributor.author | Kornegay, J. N. | en |
dc.contributor.author | Van Camp, S. D. | en |
dc.contributor.author | Herbstreith, M. H. | en |
dc.contributor.author | Secore, S. L. | en |
dc.contributor.author | Kettle, S. | en |
dc.contributor.author | Hung, W. -Y | en |
dc.contributor.author | Constantinou-Deltas, Constantinos D. | en |
dc.contributor.author | Dykstra, M. J. | en |
dc.contributor.author | Roses, A. D. | en |
dc.contributor.author | Bartlett, R. J. | en |
dc.creator | Sharp, N. J. H. | en |
dc.creator | Kornegay, J. N. | en |
dc.creator | Van Camp, S. D. | en |
dc.creator | Herbstreith, M. H. | en |
dc.creator | Secore, S. L. | en |
dc.creator | Kettle, S. | en |
dc.creator | Hung, W. -Y | en |
dc.creator | Constantinou-Deltas, Constantinos D. | en |
dc.creator | Dykstra, M. J. | en |
dc.creator | Roses, A. D. | en |
dc.creator | Bartlett, R. J. | en |
dc.date.accessioned | 2019-11-04T12:52:42Z | |
dc.date.available | 2019-11-04T12:52:42Z | |
dc.date.issued | 1992 | |
dc.identifier.uri | http://gnosis.library.ucy.ac.cy/handle/7/53391 | |
dc.description.abstract | Golden retriever muscular dystrophy (GRMD) is a spontaneous, X-linked, progressively fatal disease of dogs and is also a homologue of Duchenne muscular dystrophy (DMD). Two-thirds of DMD patients carry detectable deletions in their dystrophin gene in normal and GRMD dogs has failed to demonstrate any detectable loss of exons. Here, we have demonstrated a RNA processing error in GRMD that results from a single base change in the 3′ consensus splice site of intron 6. The seventh exon is then skipped, which predicts a termination of the dystrophin reading frame within its N-terminal domain in exon 8. This is the first example of dystrophin deficiency caused by a splice-site mutation. © 1992. | en |
dc.source | Genomics | en |
dc.source.uri | https://www.scopus.com/inward/record.uri?eid=2-s2.0-0026538578&doi=10.1016%2f0888-7543%2892%2990210-J&partnerID=40&md5=6396f9e9301dce0c63bde247cf9787d4 | |
dc.subject | article | en |
dc.subject | Male | en |
dc.subject | nonhuman | en |
dc.subject | Animal | en |
dc.subject | animal model | en |
dc.subject | Base Sequence | en |
dc.subject | Exons | en |
dc.subject | Molecular Sequence Data | en |
dc.subject | Introns | en |
dc.subject | Mutation | en |
dc.subject | nucleotide sequence | en |
dc.subject | Animalia | en |
dc.subject | Support, Non-U.S. Gov't | en |
dc.subject | Amino Acid Sequence | en |
dc.subject | Support, U.S. Gov't, P.H.S. | en |
dc.subject | RNA, Messenger | en |
dc.subject | Blotting, Northern | en |
dc.subject | gene structure | en |
dc.subject | Blotting, Southern | en |
dc.subject | mutant | en |
dc.subject | dog | en |
dc.subject | Dogs | en |
dc.subject | muscular dystrophy | en |
dc.subject | messenger rna | en |
dc.subject | Canis familiaris | en |
dc.subject | duchenne muscular dystrophy | en |
dc.subject | dystrophin | en |
dc.subject | Muscular Dystrophy, Animal | en |
dc.subject | rna processing | en |
dc.subject | RNA Processing, Post-Transcriptional | en |
dc.title | An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy | en |
dc.type | info:eu-repo/semantics/article | |
dc.identifier.doi | 10.1016/0888-7543(92)90210-J | |
dc.description.volume | 13 | |
dc.description.startingpage | 115 | |
dc.description.endingpage | 121 | |
dc.author.faculty | Σχολή Θετικών και Εφαρμοσμένων Επιστημών / Faculty of Pure and Applied Sciences | |
dc.author.department | Τμήμα Βιολογικών Επιστημών / Department of Biological Sciences | |
dc.type.uhtype | Article | en |
dc.description.notes | <p>Cited By :222</p> | en |
dc.source.abbreviation | Genomics | en |
dc.contributor.orcid | Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169] | |
dc.gnosis.orcid | 0000-0001-5549-9169 | |