The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Frame-Shift Deletions in Patients with Duchenne and Becker Muscular Dystrophy
Abstract
Duchenne muscular dystrophy (DMD) and its less severe form Becker muscular dystrophy (BMD) are allelic disorders. It has been suggested that in the mutations involving BMD, the translational reading frame of messenger RNA is maintained and a smaller, though partially functional, protein is produced. In order to test this, the exon-intron boundaries of the first ten exons of the DMD gene were determined, and 29 patients were analyzed. In a number of BMD patients (mild and severe BMD), the reading frame of messenger RNA was not maintained. On the basis of these findings, a model for reinitiation from an internal start codon is suggested.
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Cites
Saiki, R. K., Scharf, S., Faloona, F., Mullis, K. B., Horn, G. T., Erlich, H. A., & Arnheim, N. (1985) · Science · doi:10.1126/science.2999980 · Cited by 8,956
Cited by
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
Beggs, A., Koenig, M., Boyce, F., & Kunkel, L. (1990) · Human Genetics · doi:10.1007/bf00205170 · Cited by 688
Tuffery-Giraud, S., Béroud, C., Leturcq, F., Yaou, R. B., Hamroun, D., Michel-Calemard, L., Moizard, M.-P., Bernard, R., Cossée, M., Boisseau, P., et al. (2009) · Human Mutation · doi:10.1002/humu.20976 · Cited by 377
Fiber regeneration is not persistent in dystrophic (MDX) mouse skeletal muscle
DiMario, J. X., Uzman, A., & Strohman, R. C. (1991) · Developmental Biology · doi:10.1016/0012-1606(91)90340-9 · Cited by 206
Metadata
- Authors
- Malhotra, S. B., Hart, K. A., Klamut, H. J., Thomas, N. S. T., Bodrug, S. E., Burghes, A. H. M., Bobrow, M., Harper, P. S., Thompson, M. W., Ray, P. N., & Worton, R. G.
- Venue
- Science
- Published
- 1988-11-04
- Volume
- 242
- Issue
- 4879
- Pages
- 755-759
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2044530341
- Cited by
- 284
- References
- 1
- FWCI
- 8.51
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Frame-Shift Deletions in Patients with Duchenne and Becker Muscular Dystrophy. https://app.cochat.ai/papers/10.1126/science.3055295
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- Malhotra, S. B., Hart, K. A., Klamut, H. J., Thomas, N. S. T., Bodrug, S. E., Burghes, A. H. M., Bobrow, M., Harper, P. S., Thompson, M. W., Ray, P. N., & Worton, R. G. (1988). Frame-Shift Deletions in Patients with Duchenne and Becker Muscular Dystrophy. Science. https://doi.org/10.1126/science.3055295
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.