{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T22:04:56Z","timestamp":1793397896572,"version":"4.5.0"},"reference-count":77,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2007,10,13]],"date-time":"2007-10-13T00:00:00Z","timestamp":1192233600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Biotechnol"],"published-print":{"date-parts":[[2008,2]]},"DOI":"10.1007\/s12033-007-9006-7","type":"journal-article","created":{"date-parts":[[2007,6,28]],"date-time":"2007-06-28T13:28:25Z","timestamp":1183037305000},"page":"155-163","source":"Crossref","is-referenced-by-count":53,"title":["PCR\u2013SSCP: A Method for the Molecular Analysis of Genetic Diseases"],"prefix":"10.1007","volume":"38","author":[{"given":"Kakavas V.","family":"Konstantinos","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Plageras","family":"Panagiotis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vlachos T.","family":"Antonios","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Papaioannou","family":"Agelos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noulas V.","family":"Argiris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2007,10,13]]},"reference":[{"key":"9006_CR1","doi-asserted-by":"crossref","first-page":"2766","DOI":"10.1073\/pnas.86.8.2766","volume":"86","author":"M. Orita","year":"1989","unstructured":"Orita, M., Iwahana, H., Kanazawa, H., Hayashi, K., & Sekiya, T. (1989). Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proceedings of the National Academy of Science, 86, 2766\u20132770.","journal-title":"Proceedings of the National Academy of Science"},{"key":"9006_CR2","doi-asserted-by":"crossref","first-page":"3637","DOI":"10.1093\/nar\/21.16.3637","volume":"21","author":"T. Hongyo","year":"1993","unstructured":"Hongyo, T., Buzard, G., Calvert, R., & Weghorst, C. (1993). \u00abCold SSCP\u00bb: A simple, rapid, and non-radioactive method for optimized single-strand conformation polymorphism analyses. Nucleic Acids Research, 21, 3637\u20133642.","journal-title":"Nucleic Acids Research"},{"key":"9006_CR3","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1111\/j.1365-2141.1990.tb02593.x","volume":"74","author":"C. Kattamis","year":"1990","unstructured":"Kattamis, C., Cheng, H. H., Reese, A. L., Gonzalez-Redondo, J. M., Kutlar, A., Kutlar, F., & Huisman, T. H. J. (1990). Molecular characterization of \u03b2-thalassaemia in 174 Greek patients with thalassaemia major. British Journal of Haematology, 74, 342\u2013346.","journal-title":"British Journal of Haematology"},{"key":"9006_CR4","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1038\/343779a0","volume":"343","author":"C. R. Merril","year":"1990","unstructured":"Merril, C. R. (1990). Silver staining of proteins and DNA. Nature, 343, 779\u2013780.","journal-title":"Nature"},{"key":"9006_CR5","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1136\/mp.50.5.276","volume":"50","author":"T. Xie","year":"1997","unstructured":"Xie, T., Ho, S. L., & Ma, O. C. K. (1997). High resolution SSCP analysis using fornamide and ethidium bromide staining. Molecular Pathology, 50, 276\u2013278.","journal-title":"Molecular Pathology"},{"key":"9006_CR6","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1006\/mcpr.1994.1055","volume":"8","author":"A. Takahashi","year":"1994","unstructured":"Takahashi, A., Ishino, Y., Kato, Y., & Fukumaki, Y. (1994). Rapid and practical detection of \u03b2-globin mutations causing \u03b2-thalassemia by fluorescence-based PCR-single strand conformation polymorphism analysis. Molecular and Cellular Probes, 8, 385\u2013393.","journal-title":"Molecular and Cellular Probes"},{"key":"9006_CR7","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1034\/j.1600-0609.2003.00017.x","volume":"70","author":"I. Georgiou","year":"2003","unstructured":"Georgiou, I., Makis, A., Chaidos, A., Bouda, I., Hatzi, E., Kranas, V., Zilidis, C., & Bourantas, K. L. (2003). Distribution and frequency of \u03b2-thalassemia mutations in northeastern and central Greece. European Journal of Haematology, 70, 75\u201378.","journal-title":"European Journal of Haematology"},{"key":"9006_CR8","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1007\/s004390050636","volume":"101","author":"R. Schwaab","year":"1997","unstructured":"Schwaab, R., Oldenburg, J., Lalloz, M. R. A., Schwaab, U., Pemberton, S., Hanffland, P., Brackmann, H. H., Tuddenham, E. G. D., & Michaelides, K. (1997). Factor VIII gene mutations found by comparative study of SSCP, DGGE and CMC and their analysis on molecular model of factor VIII protein. Human Genetics, 101, 323\u2013332.","journal-title":"Human Genetics"},{"key":"9006_CR9","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1006\/abio.1999.4293","volume":"275","author":"D. Labuda","year":"1999","unstructured":"Labuda, D., Krajinovic, M., Richer, C., Skoll, A., Sinnet, H., Yotova, V., & Sinnett, D. (1999). Rapid detection of CYP1A1, CYP2D6, and NAT variants by multiplex polymerase chain reaction and allele-specific oligonucleotide assay. Analytical Biochemistry, 275, 84\u201392.","journal-title":"Analytical Biochemistry"},{"issue":"5","key":"9006_CR10","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1007\/BF00195818","volume":"84","author":"J. L. Serre","year":"1990","unstructured":"Serre, J. L., Simon-Bouy, B., Mornet, E., Jaume-Roig, B., Balassopoulou, A., Schwartz, M., Taillandier, A., Boue, J., & Boue, A. (1990). Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in populations genetics. Human Genetics, 84(5), 449\u2013454.","journal-title":"Human Genetics"},{"issue":"9","key":"9006_CR11","doi-asserted-by":"crossref","first-page":"1559","DOI":"10.1002\/elps.11501601259","volume":"16","author":"B. Budowle","year":"1995","unstructured":"Budowle, B., Baechtel, F. S., Comey, C. T., Giusti, A. M., & Klevan, L. (1995). Simple protocols for typing forensic biological evidence: Chemiluminescent detection for human DNA quantitation and restriction fragment length polymorphism (RFLP) analyses and manual typing of polymerase chain reaction (PCR) amplified polymorphisms. Electrophoresis, 16(9), 1559\u20131567.","journal-title":"Electrophoresis"},{"key":"9006_CR12","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1016\/0140-6736(90)92338-I","volume":"33","author":"J. Old","year":"1990","unstructured":"Old, J., Varawalla, N., & Weatherall, D. (1990). Rapid detection prenatal diagnosis of \u03b2-thalassaemia studies in Indian and Cypriot populations in the UK. Lancet, 33, 834\u2013837.","journal-title":"Lancet"},{"issue":"43","key":"9006_CR13","doi-asserted-by":"crossref","first-page":"11669","DOI":"10.1021\/bi00094a024","volume":"32","author":"T. Kusakabe","year":"1993","unstructured":"Kusakabe, T., Maekawa, K., Ichikawa, A., Uesugi, M., & Sugiura, Y. (1993). Conformation-selective DNA strand breaks by dynemicin: A molecular wedge into flexible regions of DNA. Biochemistry, 32(43), 11669\u201311675.","journal-title":"Biochemistry"},{"key":"9006_CR14","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1002\/humu.1380020503","volume":"2","author":"K. Hayashi","year":"1993","unstructured":"Hayashi, K., & Yandell, D. W. (1993). How sensitive is PCR\u2013SSCP? Human Mutation, 2, 338\u2013346.","journal-title":"Human Mutation"},{"key":"9006_CR15","first-page":"125","volume":"34","author":"W. Teschauer","year":"1996","unstructured":"Teschauer, W., Mussack, T., Braun, A., Waldner, H., & Fink, E. (1996). Conditions for single strand conformation polymorphism (SSCP) analysis with broad applicability: A study of the effects of acrylamide, buffer and glycerol concentrations in SSCP analysis of exons of the p53 gene. European Journal of Clinical Chemistry and Clinical Biochemistry, 34, 125\u2013131.","journal-title":"European Journal of Clinical Chemistry and Clinical Biochemistry"},{"key":"9006_CR16","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1016\/j.clinbiochem.2006.05.004","volume":"39","author":"W. Li","year":"2006","unstructured":"Li, W., Gao, F., Tang, W., Zhang, X., & Zhang, H. (2006). Detection of known thalassemia point mutations by snapback single-strand conformation polymorphism: The feasibility analysis. Clinical Biochemistry, 39, 833\u2013842.","journal-title":"Clinical Biochemistry"},{"issue":"10","key":"9006_CR17","doi-asserted-by":"crossref","first-page":"1120","DOI":"10.1002\/bmc.657","volume":"20","author":"V. \u039a. Kakavas","year":"2006","unstructured":"Kakavas, V. \u039a., Noulas, A. V., Kanakis, I., Bonanou, S., & Karamanos, N. K. (2006). Identification of the most common cystic fibrosis transmembrane regulator gene \u0394F508 mutation: Evaluation of PCR-single strand conformational polymorphism and polyacrylamide gel electrophoresis. Biomedical Chromatography, 20(10), 1120\u20131125.","journal-title":"Biomedical Chromatography"},{"key":"9006_CR18","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1002\/(SICI)1098-1004(1997)10:1<65::AID-HUMU9>3.0.CO;2-L","volume":"10","author":"A. Jordanova","year":"1997","unstructured":"Jordanova, A., Kalaydjieva, L., Savov, A., Clausters, M., Schwarz, M., Estivil, X., Angelicheva, D., Haworth, A., Casals, T., & Kremensky, I. (1997). SSCP analysis: A blind sensitivity trial. Human Mutation, 10, 65\u201370.","journal-title":"Human Mutation"},{"key":"9006_CR19","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1136\/jcp.56.3.237","volume":"56","author":"A. Gupta","year":"2003","unstructured":"Gupta, A., & Agarwal, S. (2003). Efficiency and cost effectiveness: PAGE-SSCP versus MDE and Phast gels for the identification of unknown \u03b2-thalassaemia mutations. Journal of Clinical Pathology, 56, 237\u2013239.","journal-title":"Journal of Clinical Pathology"},{"issue":"4","key":"9006_CR20","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1002\/humu.1380060402","volume":"6","author":"D. Glavac","year":"1995","unstructured":"Glavac, D., & Dean, M. (1995). Applications of heteroduplex analysis for mutation detection in disease genes. Human Mutation, 6(4), 281\u2013287.","journal-title":"Human Mutation"},{"issue":"4","key":"9006_CR21","doi-asserted-by":"crossref","first-page":"856","DOI":"10.1046\/j.1365-2141.1997.3193136.x","volume":"98","author":"H. A. Jackson","year":"1997","unstructured":"Jackson, H. A., Bowen, D. J., & Worwood, M. (1997). Rapid genetic screening for haemochromatosis using heteroduplex technology. British Journal of Haematology, 98(4), 856\u2013859.","journal-title":"British Journal of Haematology"},{"issue":"4922","key":"9006_CR22","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1126\/science.2570460","volume":"245","author":"B. Kerem","year":"1989","unstructured":"Kerem, B., Rommens, J. M., Buchanan, J. A., Markiewich, D., Cox, T. K., Chakravarti, A., Buchwald, M., & Tsui, L. C. (1989). Identification of the cystic fibrosis gene: Genetic analysis. Science, 245(4922), 1073\u20131080.","journal-title":"Science"},{"key":"9006_CR23","first-page":"499","volume":"155","author":"M. Myers","year":"1987","unstructured":"Myers, M., Maniatis, T., & Lerman, L. (1987). Detection and localization of single base changes by denaturing gradient gel electrophoresis. Method in Enzymology, 155, 499\u2013527.","journal-title":"Method in Enzymology"},{"issue":"5","key":"9006_CR24","first-page":"451","volume":"7","author":"S. Forrest","year":"1990","unstructured":"Forrest, S., & Cotton, R. G. (1990). Methods of detection of single base substitutions in clinical genetic practice. Molecular Biology and Medicine, 7(5), 451\u2013459.","journal-title":"Molecular Biology and Medicine"},{"issue":"5596","key":"9006_CR25","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1038\/265687a0","volume":"265","author":"F. Sanger","year":"1977","unstructured":"Sanger, F., Air, G. M., Barrel, B. G., Brown, N. L., Coulson, A. R., Fiddes, C. A., Hutchison, C. A., Slocombe, P. M., & Smith, M. (1977). Nucleotide sequence of bacteriophage phi X174 DNA. Nature, 265(5596), 687\u2013695.","journal-title":"Nature"},{"key":"9006_CR26","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1126\/science.239.4839.487","volume":"239","author":"R. Saiki","year":"1988","unstructured":"Saiki, R., Gelfant, D. H., Stoffel, S., Scharf, S. J., Higuchi, R., Horn, G. T., Mullis, K. B., & Erlich, H. A. (1988). Primer-directed enzymatic amlification of DNA with thermostable DNA polymerase. Science, 239, 487\u2013491.","journal-title":"Science"},{"key":"9006_CR27","doi-asserted-by":"crossref","first-page":"6230","DOI":"10.1073\/pnas.86.16.6230","volume":"86","author":"R. K. Saiki","year":"1989","unstructured":"Saiki, R. K., Walch, P. S., Levenson, C. H., Warren, T. C., Boehm, C. D., Kazazian, H. H. Jr, & Elrich, H. A. (1989). Genetics analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes. Proceedings of the National Academy Sciences USA, 86, 6230\u20136234.","journal-title":"Proceedings of the National Academy Sciences USA"},{"key":"9006_CR28","doi-asserted-by":"crossref","first-page":"2503","DOI":"10.1093\/nar\/17.7.2503","volume":"17","author":"C. R. Newton","year":"1989","unstructured":"Newton, C. R., Graham, A., Heptinstal, L. E., Powell, S. J., Summers, C., & Markham, A. F., et al. (1989). Analysis of many point mutations in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Research, 17, 2503\u20132516.","journal-title":"Nucleic Acids Research"},{"issue":"4","key":"9006_CR29","doi-asserted-by":"crossref","first-page":"874","DOI":"10.1016\/0888-7543(89)90129-8","volume":"5","author":"M. Orita","year":"1989","unstructured":"Orita, M., Suzuki, Y., Sekiya, T., & Hayashi, K. (1989). Rapid and sensitive detection and DNA polymorphisms using polymerase chain reaction. Genomics, 5(4), 874\u2013879.","journal-title":"Genomics"},{"key":"9006_CR30","unstructured":"Traeger-Synodinos, J., Old, J. M., Petrou, M., & Galano, R. (2002). Best practice guidelines for carrier identification and prenatal diagnosis of haemoglopinopathies. European Molecular Genetics Quality Network http:\/\/www.emqn.org."},{"issue":"1","key":"9006_CR31","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1373\/clinchem.2003.023077","volume":"50","author":"B. Foglieni","year":"2004","unstructured":"Foglieni, B., Cremonesi, L., & Travi, M. et al. (2004). \u03b2-Thalassemia microelectronic chip: A fast and accurate method for mutation detection. Clinical Chemistry, 50(1), 73\u201379.","journal-title":"Clinical Chemistry"},{"key":"9006_CR32","doi-asserted-by":"crossref","first-page":"2346","DOI":"10.1002\/elps.200405957","volume":"25","author":"V. Golnaz","year":"2004","unstructured":"Golnaz, V., Karan, K., & Backhouse, C. J. (2004). An integrated method for mutation detection using on-chip sample preparation, single-stranded conformation polymorphism, and heteroduplex analysis. Electrophoresis, 25, 2346\u20132356.","journal-title":"Electrophoresis"},{"key":"9006_CR33","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1002\/humu.10046","volume":"19","author":"A. Colosimo","year":"2002","unstructured":"Colosimo, A., Guida, V., Luca, A. D., Cappabianca, M. P., Bianco, I., Palka, G., & Dallapicolla, B. (2002). Reliability of DHPLC in mutational screening of \u03b2-globin (HBB) alleles. Human Mutation, 19, 287\u2013295.","journal-title":"Human Mutation"},{"key":"9006_CR34","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1002\/elps.200305721","volume":"25","author":"Doi Kent","year":"2004","unstructured":"Kent Doi, Hitomi, D., Eisei, N., Akihide, N., Fujita, T., & Katsushi, T. (2004). High-throughput single nucleotide polymorphism typing by fluorescent single-strand conformation polymorphism analysis with capillary electrophoresis. Electrophoresis, 25, 833\u2013838.","journal-title":"Electrophoresis"},{"issue":"19","key":"9006_CR35","doi-asserted-by":"crossref","first-page":"3836","DOI":"10.1002\/elps.200600225","volume":"27","author":"Y. S. Park","year":"2006","unstructured":"Park, Y. S., Chu, H. S., Hwang, S. H., Seo, J. H., Choi, C. Y., & Jung, G. Y. (2006). A precise mRNA quantification method using CE-based SSCP. Electrophoresis, 27(19), 3836\u20133845.","journal-title":"Electrophoresis"},{"key":"9006_CR36","doi-asserted-by":"crossref","first-page":"2259","DOI":"10.1002\/1522-2683(200207)23:14<2259::AID-ELPS2259>3.0.CO;2-8","volume":"23","author":"Y. Kukita","year":"2002","unstructured":"Kukita, Y., Higasa, K., Baba, S., Nakamura, M., Manago, S., Suzuki, A., Tahira, T., & Hayashi, K. (2002). A single-strand conformation polymorphism method for the large-scale analysis of mutations\/polymorphisms using capillary array electrophoresis. Electrophoresis, 23, 2259\u20132266.","journal-title":"Electrophoresis"},{"issue":"19","key":"9006_CR37","doi-asserted-by":"crossref","first-page":"3805","DOI":"10.1002\/elps.200600421","volume":"27","author":"C. N. Hestekin","year":"2006","unstructured":"Hestekin, C. N., & Barron, A. E. (2006). The potential of electrophoretic mobility shift assays for clinical mutation detection. Electrophoresis, 27(19), 3805\u20133815.","journal-title":"Electrophoresis"},{"issue":"1","key":"9006_CR38","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1093\/hmg\/5.1.107","volume":"5","author":"Q. Liu","year":"1996","unstructured":"Liu, Q., Feng, J., & Sommer, S. S. (1996). Bi-ddF: A rapid method for quantitative detection of mutations in genomic regions of 300\u2013600bp. Human Molecular Genetics, 5(1), 107\u2013114.","journal-title":"Human Molecular Genetics"},{"key":"9006_CR39","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1007\/BF02762409","volume":"5","author":"J. S. Ellison","year":"1996","unstructured":"Ellison, J. S. (1996). Fluorescence-based mutation detection. Molecular Biotechnology, 5, 17\u201331.","journal-title":"Molecular Biotechnology"},{"issue":"6","key":"9006_CR40","doi-asserted-by":"crossref","first-page":"853","DOI":"10.1373\/49.6.853","volume":"49","author":"C. T. Wittwer","year":"2003","unstructured":"Wittwer, C. T., Reed, G. H., Gundry, C. N., Vandersteen, J. A., & Pryor, R. J. (2003). High resolution genotyping by amplicon melting analysis LCgreen. Clinical Chemistry, 49(6), 853\u2013860.","journal-title":"Clinical Chemistry"},{"issue":"1","key":"9006_CR41","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/jcla.20091","volume":"20","author":"V. K. Kakavas","year":"2006","unstructured":"Kakavas, V. K., Noulas, A., Chalkias, C., Hatzichristodoulou, C., Georgiou, I., Georgatsou, E., & Bonanou, S. (2006). Identification of the four most common \u03b2-globin gene mutations in greek \u03b2-thalassaemic patients and carriers by non-radioactive PCR\u2013SSCP: Advantages and limitations of the method. Journal of Clinical Laboratory Analysis, 20(1), 1\u20137.","journal-title":"Journal of Clinical Laboratory Analysis"},{"key":"9006_CR42","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/0092-8674(90)90252-A","volume":"62","author":"D. Viskochil","year":"1990","unstructured":"Viskochil, D., Buchberg, A. M., Xu, G., Cawthon, R. M., Stevens, J., Wolff, R. K., Culver, M., & Carey, J. C. et al. (1990). Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell, 62, 193\u2013201.","journal-title":"Cell"},{"key":"9006_CR43","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1016\/0092-8674(81)90021-0","volume":"66","author":"J. Groden","year":"1991","unstructured":"Groden, J., Thliveris, A., Samowitz, W., Carlson, M., Gelbert, L., Albertsen, H., Joslyn, G., & Stevens, J., et al. (1991). Identification and characterization of the familiar adenomatous polyposis coli gene. Cell, 66, 589\u2013600.","journal-title":"Cell"},{"issue":"6300","key":"9006_CR44","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1038\/348448a0","volume":"348","author":"P. Berta","year":"1990","unstructured":"Berta, P., Hawkins, J. R., Sinclair, A. H., Taylor, A., Griffiths, B. L., Goodfellow, P.N., & Fellous, M. (1990). Genetic evidence equating SRY and the testis-determining factor. Nature, 348(6300), 448\u2013450.","journal-title":"Nature"},{"key":"9006_CR45","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1038\/352337a0","volume":"352","author":"H. C. Dietz","year":"1991","unstructured":"Dietz, H. C., Cutting, G. R., Pyeritz, R. E., Maslen, C. L., Sakai, L. Y., Corson, G. M., Puffenberger, E. G., & Hamosh, A., et al. (1991). Marfan syndrome caused by a recurrent de novo missense mutation in the filibrin gene. Nature, 352, 337\u2013339.","journal-title":"Nature"},{"issue":"5","key":"9006_CR46","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1016\/0092-8674(91)90374-8","volume":"67","author":"L. J. Ptacek","year":"1991","unstructured":"Ptacek, L. J., George, A. L., Griggs, R. C., Tawil, R., Kallen, R. G., & Leppert, M. F. (1991). Identification of a mutation in gene causing hyperkalemic periodic paralysis. Cell, 67(5), 1021\u20131027.","journal-title":"Cell"},{"issue":"6343","key":"9006_CR47","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1038\/353431a0","volume":"353","author":"J. Pelletier","year":"1991","unstructured":"Pelletier, J., Bruening, W., Li, F. P., Haber, D. A., Glaser, T., & Housman, D. E. (1991). WT1 mutations contribute to abnormal genital system development and hereditary Wilms tumor. Nature, 353(6343), 431\u2013434.","journal-title":"Nature"},{"key":"9006_CR48","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1046\/j.1469-1809.1999.6330193.x","volume":"63","author":"K. Simonsen","year":"1999","unstructured":"Simonsen, K., Dissing, J., Budbeck, L., & Schwartz, M. (1999). Rapid and simple determination of hereditary haemochromatosis mutations by PCR\u2013SSCP: Detection of a new polymorphic mutation. Annual Human Genetics, 63, 193\u2013197.","journal-title":"Annual Human Genetics"},{"issue":"2","key":"9006_CR49","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1093\/nar\/19.2.405","volume":"19","author":"P. J. Ainsworth","year":"1990","unstructured":"Ainsworth, P. J., Surh, L. C., & Coulter-Mackie, M. B. (1990). Diagnostic single strand conformational polymorphism (SSCP): A simplified non-radioisotopic method as applied to a Tay-sachs B1 variant. Nucleic Acids Research, 19(2), 405\u2013406.","journal-title":"Nucleic Acids Research"},{"key":"9006_CR50","first-page":"1181","volume":"48","author":"E. H. Mules","year":"1991","unstructured":"Mules, E. H., Peterson, M. B., Kazazian, H. H. Jr., & Thomas, G. H. (1991). A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay-Sachs disease) patients. American Journal of Human Genetics, 48, 1181\u20131185.","journal-title":"American Journal of Human Genetics"},{"issue":"1","key":"9006_CR51","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/j.thromres.2006.07.011","volume":"120","author":"M. Karimipoor","year":"2006","unstructured":"Karimipoor, M., Zeinali, S., Nafissi, N., Tuddenham, E. G., Lak, M., & Safaee, R. et al. (2006). Identification of factor IX mutations in Iranian haemophilia B patients by SSCP and sequencing. Thrombic Research, 120(1), 135\u2013139.","journal-title":"Thrombic Research"},{"issue":"3","key":"9006_CR52","first-page":"668","volume":"49","author":"T. Saijo","year":"1991","unstructured":"Saijo, T., Ito, M., Takeda, E., Huq, A. H. M. M., Naito, E., Yokota, I., Sone, T., Pike, J. W., & Kuroda, Y. (1991). A unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin D-depentent rickets type II: Utility of single-strand conformation polymorphism analysis for heterozygous carrier detection. American Journal of Human Genetics, 49(3), 668\u2013673.","journal-title":"American Journal of Human Genetics"},{"issue":"6353","key":"9006_CR53","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1038\/354478a0","volume":"354","author":"G. J. Farrar","year":"1991","unstructured":"Farrar, G. J., Kenna, P., Jordan, S. A., Kumar-Singh, R., Humphries, M. M., Sharp, E. M., Sheils, D. M., & Humphries, P. (1991). A three-base deletion in the peripherin-RDS gene in one form of retinitis pigmentosa. Nature, 354(6353), 478\u2013480.","journal-title":"Nature"},{"issue":"8","key":"9006_CR54","doi-asserted-by":"crossref","first-page":"947","DOI":"10.1097\/01.iae.0000250010.60908.e3","volume":"26","author":"B. Pajic","year":"2006","unstructured":"Pajic, B., Weigell-Weber, M., Schipper, I., Kryenbuhl, C., Buchi, E. R., Spiegel, R., & Hergersberg, M. (2006). A novel complex mutation event in the peripherin\/RDS gene in a family with retinal pattern dystrophy. Retina, 26(8), 947\u2013953.","journal-title":"Retina"},{"key":"9006_CR55","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1002\/elps.200305618","volume":"25","author":"K. Kleparnik","year":"2004","unstructured":"Kleparnik, K., Grochova, D., Skopkova, Z., & Adam, T. (2004). Detection of the major mutation M467T causing cystinuria by single-strand conformation polymorphism analysis capillary electrophoresis. Electrophoresis, 25, 57\u201364.","journal-title":"Electrophoresis"},{"issue":"8","key":"9006_CR56","doi-asserted-by":"crossref","first-page":"974","DOI":"10.1111\/j.1468-3083.2006.01705.x","volume":"20","author":"M. Lecha","year":"2006","unstructured":"Lecha, M., Badenas, C., Puig, S., Orfila, J., Mila, M., To-Figueras, J., Munoz, C., Mercader, P., & Herrero, C. (2006). Genetic studies in variegate porphyria in Spain. Identification of gene mutations and family study for carrier detection. Journal of European Academy of Dermatology and Venereology, 20(8), 974\u2013979.","journal-title":"Journal of European Academy of Dermatology and Venereology"},{"key":"9006_CR57","doi-asserted-by":"crossref","first-page":"734","DOI":"10.1016\/j.bbrc.2006.04.136","volume":"345","author":"W. Lei","year":"2006","unstructured":"Lei, W., Tsai, C. H., Tsai, Y., Hsu, C. M., Lee, C. C., & Tsai, F. J. (2006). Mutation analysis if Taiwanese Wilson disease patients. Biochemical and Biophysical Research, 345, 734\u2013738.","journal-title":"Biochemical and Biophysical Research"},{"key":"9006_CR58","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/j.cancergencyto.2005.08.017","volume":"167","author":"F. A. B. Andrade","year":"2006","unstructured":"Andrade, F. A. B., Barbosa, R. H., Vargas, F. R., Ferman, S., Eisenberg, A. L., Fernandes, L., & Bonvicino, C. R. (2006). A molecular study of first and second RB1 mutational hits in retinoblastoma patients. Cancer Genetics and Cytogenetic, 167, 43\u201346.","journal-title":"Cancer Genetics and Cytogenetic"},{"key":"9006_CR59","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1002\/elps.200500420","volume":"27","author":"N. S. Hamblet","year":"2006","unstructured":"Hamblet, N. S., Ragland, B., Mervat, A., Conyers, B., & Castora, F. J. (2006). Mutations in mitochondrial-encoded cytochrome c oxidase subunits I, II and III genes detected in Alzheimer\u2019s disease using single-strand conformation polymorphism. Electrophoresis, 27, 398\u2013408.","journal-title":"Electrophoresis"},{"issue":"1","key":"9006_CR60","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1016\/j.neulet.2006.08.017","volume":"409","author":"J. Feng","year":"2006","unstructured":"Feng, J., Schroer, R., Yan, J., Song, W., Yang, C., Bockholt, A., Cook, E. H. Jr, & Skinner, C., et al. (2006). High frequency of neurexin 1beta signal peptide structural variants in patients with autism. Neuroscience Letters, 409(1), 10\u201313.","journal-title":"Neuroscience Letters"},{"key":"9006_CR61","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1016\/0092-8674(90)90196-L","volume":"61","author":"M. Dean","year":"1990","unstructured":"Dean, M., Gerrard, B., Stewart, C., Krueger, L., Holsclaw, D., Quittell, L., Baranov, V., & Kapronov, N., et al. (1990). Identification of cystic fibrosis mutations. Cell, 61, 863\u2013870.","journal-title":"Cell"},{"issue":"2","key":"9006_CR62","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1016\/j.jcf.2004.05.003","volume":"3","author":"C. Ferec","year":"2004","unstructured":"Ferec, C., Harris, A., & Schwarz, M. J. (2004). Analysis of genomic CFTR DNA. Journal of Cystic Fibrosis, 3(2), 7\u201310.","journal-title":"Journal of Cystic Fibrosis"},{"key":"9006_CR63","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1159\/000153977","volume":"41","author":"L. Kalaydjieva","year":"1991","unstructured":"Kalaydjieva, L., Plageras, P., & Horst, J. (1991). Further evidence for cystic fibrosis in Southern Europe. Human Heredity, 41, 65\u201368.","journal-title":"Human Heredity"},{"key":"9006_CR64","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1002\/humu.1380010310","volume":"1","author":"N. Ghanem","year":"1992","unstructured":"Ghanem, N., Girodon, E., Vidaud, M., Martin Joiane, Fanen, P., Plassa, F., & Goosens, M. (1992). A comprehensive scanning method for rapid detection of \u03b2-globin gene mutations and polymorphisms. Human Mutatation, 1, 229\u2013239.","journal-title":"Human Mutatation"},{"key":"9006_CR65","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1126\/science.2181665","volume":"248","author":"J. D. Watson","year":"1990","unstructured":"Watson, J. D. (1990). The human genome project: Past, present and future. Science, 248, 44\u201349.","journal-title":"Science"},{"key":"9006_CR66","doi-asserted-by":"crossref","first-page":"2888","DOI":"10.1002\/elps.200500095","volume":"26","author":"A. Umut","year":"2005","unstructured":"Umut, A., Klein, W., Rohde, G., Stemmler, S., Epplen, J.T., & Werninghaus, G. S. (2005). Polymorphisms in the interleukin-8 gene in patients with chronic obstructive pulmonary disease. Electrophoresis, 26, 2888\u20132891.","journal-title":"Electrophoresis"},{"issue":"24","key":"9006_CR67","doi-asserted-by":"crossref","first-page":"3156","DOI":"10.1001\/jama.1990.03450240058040","volume":"264","author":"A. M. Bolos","year":"1990","unstructured":"Bolos, A. M., Dean, M., Lucas-Derse, S., Ramsburg, M., Brown, G. L., & Goldman, D. (1990). Population and pedigree studies reveal a lack of association between the dopamine D2 receptor gene and alcoholism. JAMA, 264(24), 3156\u20133160.","journal-title":"JAMA"},{"issue":"15","key":"9006_CR68","doi-asserted-by":"crossref","first-page":"4313","DOI":"10.1093\/nar\/19.15.4313","volume":"19","author":"A. Muraoka","year":"1991","unstructured":"Muraoka, A., Sakura, H., Kishimoto, M., Akanuma, Y., Buse, J. B., Yusuda, K., Seino, S., Bell, G. L., Yazaki, Y., Kasuga, M., & Kadowaki, T. (1991). Polymorphism in exon 4a of the human GLUT4\/muscle-fat facilitative glucose transporter gene detected by SSCP. Nucleic Acids Research, 19(15), 4313.","journal-title":"Nucleic Acids Research"},{"key":"9006_CR69","first-page":"106","volume":"49","author":"S. E. Poduslo","year":"1991","unstructured":"Poduslo, S. E., Dean, M., Kolch, U., & O\u2019Briaen, S. J. (1991). Detecting high-resolution polymorphisms in human coding loci by combining PCR and single-strand conformation polymorphism (SSCP) analysis. American Journal Human Genetics, 49, 106\u2013111.","journal-title":"American Journal Human Genetics"},{"issue":"15","key":"9006_CR70","doi-asserted-by":"crossref","first-page":"6652","DOI":"10.1073\/pnas.88.15.6652","volume":"88","author":"M. B. Benjamin","year":"1991","unstructured":"Benjamin, M. B., Potter, H., Yandell, D. W., & Little, J. B. (1991). A system for assaying homologous recombination at the endogenous human thimidine kinase gene. Proceedings of the National Academy Sciences USA, 88(15), 6652\u20136656.","journal-title":"Proceedings of the National Academy Sciences USA"},{"key":"9006_CR71","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/S0166-0934(96)02134-9","volume":"64","author":"R. R. Lareu","year":"1997","unstructured":"Lareu, R. R., Swanson, N. R., & Fox, S. A. (1997). Rapid and sensitive genotyping of hepatitis C virus by single strand conformation polymorphism. Journal of Virology Methods, 64, 11\u201318.","journal-title":"Journal of Virology Methods"},{"key":"9006_CR72","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1016\/0166-0934(95)00096-6","volume":"55","author":"V. Belcum Alex","year":"1995","unstructured":"Belcum Alex, V. (1995). Low-strigency single specific primer PCR, DNA sequencing and single strand conformation polymorphism of PCR products for identification of genetic variants of human papilloma virus type 16. Journal of Virology Methods, 55, 435\u2013443.","journal-title":"Journal of Virology Methods"},{"issue":"5","key":"9006_CR73","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1016\/0009-9120(95)00035-8","volume":"28","author":"M. Jaksch","year":"1995","unstructured":"Jaksch, M., Gerbitz, K. D., & Kilger, C. (1995). \u00abScreening for mitochondrial DNA (mtDNA) point mutations using non-radioactive single strand conformation polymorphism (SSCP) analysis. Clinical Biochemistry, 28(5), 503\u2013509.","journal-title":"Clinical Biochemistry"},{"issue":"1","key":"9006_CR74","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1002\/1522-2683(200201)23:1<27::AID-ELPS27>3.0.CO;2-7","volume":"23","author":"M. Hu","year":"2002","unstructured":"Hu, M., Chilton, N. B., Zhu, X., & Gasser, R. B. (2002). Single-strand conformation polymorphism-based analysis of mitochondrial cytochrome C oxidase subunit 1 reveals significant substructuring in hookworm populations. Electrophoresis, 23(1), 27\u201334.","journal-title":"Electrophoresis"},{"key":"9006_CR75","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1002\/jcla.7","volume":"15","author":"N. Siafakas","year":"2001","unstructured":"Siafakas, N., Georgopoulou, A., Markoulatos, P., Spyrou, N., & Stanway, G. (2001). Molecular detection and identification of an enterovirus during an outbreak of aseptic meningitis. Journal of Clinical Laboratory Analysis, 15, 87\u201395.","journal-title":"Journal of Clinical Laboratory Analysis"},{"key":"9006_CR76","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/j.diagmicrobio.2006.03.003","volume":"56","author":"M. Kumar","year":"2006","unstructured":"Kumar, M., & Kumar, P. (2006). Single-stranded conformation polymorphism of large subunit of ribosomal RNA is best suited to diagnosing fungal infections and differentiating fungi at species level. Diagnosis Microbes Infection Diseases, 56, 45\u201351.","journal-title":"Diagnosis Microbes Infection Diseases"},{"key":"9006_CR77","doi-asserted-by":"crossref","unstructured":"Weidong, P., Keng, Y., Xianmin, Z., Hu, M., Youssef, G., Abs, E. L.-O., & Gasser, R. B. (2003). Molecular epidemiological investigation of Ascaris genotypes in China based on single-strand conformation polymorphism analysis of ribosomal DNA. Electrophoresis, 24, 2308\u20132315.","DOI":"10.1002\/elps.200305455"}],"container-title":["Molecular Biotechnology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12033-007-9006-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s12033-007-9006-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12033-007-9006-7","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,15]],"date-time":"2024-02-15T14:37:30Z","timestamp":1708007850000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s12033-007-9006-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,10,13]]},"references-count":77,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2008,2]]}},"alternative-id":["9006"],"URL":"https:\/\/doi.org\/10.1007\/s12033-007-9006-7","relation":{},"ISSN":["1073-6085","1559-0305"],"issn-type":[{"value":"1073-6085","type":"print"},{"value":"1559-0305","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,10,13]]}}}