The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
Open accessAbstract
The application of recombinant DNA technology to prenatal diagnosis of many recessively inherited X-linked diseases is complicated by a high frequency of heterogeneous, new mutations (1). Partial gene deletions account for more than 50% of Duchenne muscular dystrophy (DMD) lesions, and approximately one-third of all cases result from a new mutation (2-5). We report the isolation and DNA sequence of several deletion prone exons from the human DMD gene. We also describe a rapid method capable of detecting the majority of deletions in the DMD gene. This procedure utilizes simultaneous genomic DNA amplification of multiple widely separated sequences and should permit deletion scanning at any hemizygous locus. We demonstrate the application of this multiplex reaction for prenatal and postnatal diagnosis of DMD.
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Cites
Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase
Saiki, R. K., Gelfand, D. H., Stoffel, S., Scharf, S. J., Higuchi, R., Horn, G. T., Mullis, K. B., & Erlich, H. A. (1988) · Science · doi:10.1126/science.2448875 · Cited by 17,719
Yen, P. H., Allen, E., Marsh, B., Mohandas, T., Wang, N., Taggart, R. T., & Shapiro, L. J. (1987) · Cell · doi:10.1016/0092-8674(87)90447-8 · Cited by 269
Cited by
Disease-Specific Induced Pluripotent Stem Cells.
Park, I.-H., Arora, N., Huo, H., Maherali, N., Ahfeldt, T., Shimamura, A., Lensch, M. W., Cowan, C., Hochedlinger, K., & Daley, G. Q. (2008) · Cell · doi:10.1016/j.cell.2008.07.041 · Cited by 2,196
“Multiplex PCR analysis with primer sets amplifying several (but not all) intragenic intervals of the dystrophin gene (Beggs et al., 1990; Chamberlain et al., 1988) revealed the deletion of exons 45–52 in the iPS cells derived from a patient with Duchenne muscular dystrophy (DMD; Figure 1C).”
Short-sequence DNA repeats in prokaryotic genomes
van Belkum, A., Scherer, S., van Alphen, L., & Verbrugh, H. (1998) · Microbiology and Molecular Biology Reviews · doi:10.1128/mmbr.62.2.275-293.1998 · Cited by 737
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
Zhu, H., Zhang, H., Xu, Y., Laššáková, S., Korabečná, M., & Neužil, P. (2020) · BioTechniques · doi:10.2144/btn-2020-0057 · Cited by 380
Multiplex PCR: Optimization and Application in Diagnostic Virology
Elnifro, E. M., Ashshi, A. M., Cooper, R. J., & Klapper, P. E. (2000) · Clinical Microbiology Reviews · doi:10.1128/cmr.13.4.559-570.2000 · Cited by 964
Metadata
- Authors
- Chamberlain, J. S., Gibbs, R. A., Rainer, J. E., Nguyen, P. N., & Thomas, C.
- Venue
- Nucleic Acids Research
- Publisher
- Oxford University Press (OUP)
- Published
- 1988
- Volume
- 16
- Issue
- 23
- Pages
- 11141-11156
- ISSN
- 0305-1048 (ISSN-L)
- 1362-4962
- OpenAlex
- W2084507708
- Cited by
- 1,262
- References
- 2
- FWCI
- 15.63
- Type
- journal article
- Language
- en
- Open access
- green
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- Chamberlain, J. S., Gibbs, R. A., Rainer, J. E., Nguyen, P. N., & Thomas, C. (1988). Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Research. https://doi.org/10.1093/nar/16.23.11141
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