The DOI matches its Crossref record; 17 of the 17 references it cites were found in a registry or an index.
MLPA and MAPH: New techniques for detection of gene deletions
Open accessAbstract
Screening for deletions of all or part of genes poses a challenge in the diagnostic laboratory. Numerous methods are available for detecting deletions of a few base pairs or very large deletions, but difficulties arise in detecting deletions of a few kilobases. Two new techniques have recently been described that allow detection of such mid-size deletions by simultaneously screening for the loss or duplication of up to 40 target sequences. These are the multiplex amplification and probe hybridization (MAPH) and the multiplex ligation-dependent probe amplification (MLPA). Both rely on sequence-specific probe hybridization to genomic DNA, followed by amplification of the hybridized probe, and semi-quantitative analysis of the resulting PCR products. The relative peak heights or band intensities from each target indicate their initial concentration. The two techniques differ in the ease with which probes can be generated in house, and the labor intensity of performing the assay.
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Koenig, M., Beggs, A. H., Moyer, M., Scherpf, S., Heindrich, K., Bettecken, T., Meng, G., Müller, C. R., Lindlöf, M., Kääriäinen, H. A., et al. (1989) · Europe PMC (PubMed Central) · Cited by 961
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Hogervorst, F. B. L., Nederlof, P. M., Gille, J. J. P., McElgunn, C. J., Grippeling, M., Pruntel, R., Regnerus, R., van Welsem, T., van Spaendonk, R., Menko, F. H., et al. (2003) · PubMed · Cited by 314
Puget, N., Stoppa‐Lyonnet, D., Sinilnikova, O. M., Pagès-Berhouet, S., Lynch, H. T., Lenoir, G., & Mazoyer, S. (1999) · PubMed · Cited by 257
MSH2 genomic deletions are a frequent cause of HNPCC
Wijnen, J., van der Klift, H., Vasen, H., Khan, P. M., Menko, F., Tops, C., Meijers Heijboer, H., Lindhout, D., Møller, P., & Fodde., R. (1998) · Nature Genetics · doi:10.1038/3795 · Cited by 230
Measurement of locus copy number by hybridisation with amplifiable probes
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Universal DNA array detection of small insertions and deletions in BRCA1 and BRCA2
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The development and clinical use of trastuzumab (Herceptin).
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Cited by
Microsatellite Instability in Colorectal Cancer
Boland, C. R., & Goel, A. (2010) · Gastroenterology · doi:10.1053/j.gastro.2009.12.064 · Cited by 2,456
Osbak, K. K., Colclough, K., Saint-Martin, C., Beer, N. L., Bellanné-Chantelot, C., Ellard, S., & Gloyn, A. L. (2009) · Human Mutation · doi:10.1002/humu.21110 · Cited by 485
Beckmann, J. S., Estivill, X., & Antonarakis, S. E. (2007) · Nature Reviews Genetics · doi:10.1038/nrg2149 · Cited by 428
Metadata
- Authors
- Sellner, L. N., & Taylor, G. R.
- Venue
- Human Mutation
- Publisher
- Hindawi Limited
- Published
- 2004
- Volume
- 23
- Issue
- 5
- Pages
- 413-419
- ISSN
- 1059-7794 (ISSN-L)
- 1098-1004
- OpenAlex
- W1979175247
- Cited by
- 291
- References
- 17
- FWCI
- 13.64
- Type
- journal article
- Language
- en
- Open access
- bronze
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