The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Direct detection and automated sequencing of individual alleles after electrophoretic strand separation: identification of a common nonsense mutation in exon 9 of the human lipoprotein lipase gene
Open accessAbstract
Large-scale screening by direct sequencing of DNA to detect molecular variants remains a laborious endeavor whose difficulty is compounded by heterozygosity. We show that mobility shifts of single-stranded DNA electrophoresed under nondenaturing conditions can be used not only to detect variants (Orita,M. et al., 1989, Genomics, 5, 874-879), but also to separate and sequence directly individual alleles. In this manner, we have identified a common variant of human lipoprotein lipase resulting from a nonsense mutation in exon 9 of the gene. Whether this variant is of functional significance remains to be determined.
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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
A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase
Sanger, F., & Coulson, A. R. (1975) · Journal of Molecular Biology · doi:10.1016/0022-2836(75)90213-2 · Cited by 2,709
Cited by
Shimkets, R. A., Warnock, D. G., Bositis, C. M., Nelson-Williams, C., Hansson, J. H., Schambelan, M., Gill, J. R., Ulick, S., Milora, R. V., Findling, J. W., et al. (1994) · Cell · doi:10.1016/0092-8674(94)90250-x · Cited by 1,259
DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene
Nickerson, D. A., Taylor, S. L., Weiss, K. M., Clark, A. G., Hutchinson, R. G., Stengård, J., Salomaa, V., Vartiainen, E., Boerwinkle, E., & Sing, C. F. (1998) · Nature Genetics · doi:10.1038/907 · Cited by 476
Clark, A. G., Weiss, K. M., Nickerson, D. A., Taylor, S. L., Buchanan, A., Stengård, J., Salomaa, V., Vartiainen, E., Perola, M., Boerwinkle, E., et al. (1998) · The American Journal of Human Genetics · doi:10.1086/301977 · Cited by 435
Genetic determinants of plasma triglycerides
Johansen, C. T., Kathiresan, S., & Hegele, R. A. (2011) · Journal of Lipid Research · doi:10.1194/jlr.r009720 · Cited by 263
Lipoprotein Lipase S447X: A Naturally Occurring Gain-of-Function Mutation
Rip, J., Nierman, M. C., Ross, C. J., Jukema, J. W., Hayden, M. R., Kastelein, J. J. P., Stroes, E. S. G., & Kuivenhoven, J. A. (2006) · Arteriosclerosis, Thrombosis, and Vascular Biology · doi:10.1161/01.atv.0000219283.10832.43 · Cited by 157
Metadata
- Authors
- Hata, A., Robertson, M., Emi, M., & Lalouel, J.-M.
- Venue
- Nucleic Acids Research
- Publisher
- Oxford University Press (OUP)
- Published
- 1990
- Volume
- 18
- Issue
- 18
- Pages
- 5407-5411
- ISSN
- 0305-1048 (ISSN-L)
- 1362-4962
- OpenAlex
- W2169253083
- Cited by
- 178
- References
- 2
- FWCI
- 12.84
- Type
- journal article
- Language
- en
- Open access
- green
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- CoChat. (2026). Citation check: Direct detection and automated sequencing of individual alleles after electrophoretic strand separation: identification of a common nonsense mutation in exon 9 of the human lipoprotein lipase gene. https://app.cochat.ai/papers/10.1093/nar/18.18.5407
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- Hata, A., Robertson, M., Emi, M., & Lalouel, J.-M. (1990). Direct detection and automated sequencing of individual alleles after electrophoretic strand separation: identification of a common nonsense mutation in exon 9 of the human lipoprotein lipase gene. Nucleic Acids Research. https://doi.org/10.1093/nar/18.18.5407
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