Detection Of heterozygous large deletions in the antithrombin gene using multiplex polymerase chain reaction and denatured high performance liquid chromatography
The present study reports a method for the easy, rapid and cost effective detection of heterozygous large deletions. As a model gene all exons of the antithrombin gene were amplified in a one tube multiplex polymerase chain reaction (PCR) and the products separated according to their size by reverse...
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| المؤلف الرئيسي: | |
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| مؤلفون آخرون: | , , , , , , , |
| التنسيق: | article |
| منشور في: |
2006
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| الوصول للمادة أونلاين: | http://hdl.handle.net/10725/6177 http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php http://www.haematologica.org/content/91/9/1264.full.pdf+html |
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| _version_ | 1864513478637649921 |
|---|---|
| author | El Maarri, O. |
| author2 | Luxembourg, B. Lindoff-Last, E. Khochhan, L. Bruhn, HD Delev, D. Watzaka, M. Seifried, E. Oldenburg, J. |
| author2_role | author author author author author author author author |
| author_facet | El Maarri, O. Luxembourg, B. Lindoff-Last, E. Khochhan, L. Bruhn, HD Delev, D. Watzaka, M. Seifried, E. Oldenburg, J. |
| author_role | author |
| dc.creator.none.fl_str_mv | El Maarri, O. Luxembourg, B. Lindoff-Last, E. Khochhan, L. Bruhn, HD Delev, D. Watzaka, M. Seifried, E. Oldenburg, J. |
| dc.date.none.fl_str_mv | 2006 2017-09-13T08:49:14Z 2017-09-13T08:49:14Z 2017-09-13 |
| dc.identifier.none.fl_str_mv | 1592-8721 http://hdl.handle.net/10725/6177 Pavlova, A., El-Maarri, O., Luxembourg, B., Lindhoff-Last, E., Kochhan, L., Bruhn, H. D., ... & Oldenburg, J. (2006). Detection of heterozygous large deletions in the antithrombin gene using multiplex polymerase chain reaction and denatured high performance liquid chromatography. haematologica, 91(9), 1264-1267. http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php http://www.haematologica.org/content/91/9/1264.full.pdf+html |
| dc.language.none.fl_str_mv | en |
| dc.relation.none.fl_str_mv | Haematologica |
| dc.rights.*.fl_str_mv | info:eu-repo/semantics/openAccess |
| dc.title.none.fl_str_mv | Detection Of heterozygous large deletions in the antithrombin gene using multiplex polymerase chain reaction and denatured high performance liquid chromatography |
| dc.type.none.fl_str_mv | Article info:eu-repo/semantics/publishedVersion info:eu-repo/semantics/article |
| description | The present study reports a method for the easy, rapid and cost effective detection of heterozygous large deletions. As a model gene all exons of the antithrombin gene were amplified in a one tube multiplex polymerase chain reaction (PCR) and the products separated according to their size by reverse-phase ion-pair high performance liquid chromatography. A significant reduction in the height of a peak in the probandOs sample compared to in the control indicates the presence of a large deletion of the corresponding allele. Using this approach we identified heterozygous deletions in four patients: the deletions affected exons 1 and 2, exon 7 and the whole antithrombin gene. |
| eu_rights_str_mv | openAccess |
| format | article |
| id | LAURepo_a6ad8eea352504e2213a5d7d19608a95 |
| identifier_str_mv | 1592-8721 Pavlova, A., El-Maarri, O., Luxembourg, B., Lindhoff-Last, E., Kochhan, L., Bruhn, H. D., ... & Oldenburg, J. (2006). Detection of heterozygous large deletions in the antithrombin gene using multiplex polymerase chain reaction and denatured high performance liquid chromatography. haematologica, 91(9), 1264-1267. |
| language_invalid_str_mv | en |
| network_acronym_str | LAURepo |
| network_name_str | Lebanese American University repository |
| oai_identifier_str | oai:laur.lau.edu.lb:10725/6177 |
| publishDate | 2006 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| spelling | Detection Of heterozygous large deletions in the antithrombin gene using multiplex polymerase chain reaction and denatured high performance liquid chromatographyEl Maarri, O.Luxembourg, B.Lindoff-Last, E.Khochhan, L.Bruhn, HDDelev, D.Watzaka, M.Seifried, E.Oldenburg, J.The present study reports a method for the easy, rapid and cost effective detection of heterozygous large deletions. As a model gene all exons of the antithrombin gene were amplified in a one tube multiplex polymerase chain reaction (PCR) and the products separated according to their size by reverse-phase ion-pair high performance liquid chromatography. A significant reduction in the height of a peak in the probandOs sample compared to in the control indicates the presence of a large deletion of the corresponding allele. Using this approach we identified heterozygous deletions in four patients: the deletions affected exons 1 and 2, exon 7 and the whole antithrombin gene.PublishedN/A2017-09-13T08:49:14Z2017-09-13T08:49:14Z20062017-09-13Articleinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article1592-8721http://hdl.handle.net/10725/6177Pavlova, A., El-Maarri, O., Luxembourg, B., Lindhoff-Last, E., Kochhan, L., Bruhn, H. D., ... & Oldenburg, J. (2006). Detection of heterozygous large deletions in the antithrombin gene using multiplex polymerase chain reaction and denatured high performance liquid chromatography. haematologica, 91(9), 1264-1267.http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.phphttp://www.haematologica.org/content/91/9/1264.full.pdf+htmlenHaematologicainfo:eu-repo/semantics/openAccessoai:laur.lau.edu.lb:10725/61772021-03-19T10:00:49Z |
| spellingShingle | Detection Of heterozygous large deletions in the antithrombin gene using multiplex polymerase chain reaction and denatured high performance liquid chromatography El Maarri, O. |
| status_str | publishedVersion |
| title | Detection Of heterozygous large deletions in the antithrombin gene using multiplex polymerase chain reaction and denatured high performance liquid chromatography |
| title_full | Detection Of heterozygous large deletions in the antithrombin gene using multiplex polymerase chain reaction and denatured high performance liquid chromatography |
| title_fullStr | Detection Of heterozygous large deletions in the antithrombin gene using multiplex polymerase chain reaction and denatured high performance liquid chromatography |
| title_full_unstemmed | Detection Of heterozygous large deletions in the antithrombin gene using multiplex polymerase chain reaction and denatured high performance liquid chromatography |
| title_short | Detection Of heterozygous large deletions in the antithrombin gene using multiplex polymerase chain reaction and denatured high performance liquid chromatography |
| title_sort | Detection Of heterozygous large deletions in the antithrombin gene using multiplex polymerase chain reaction and denatured high performance liquid chromatography |
| url | http://hdl.handle.net/10725/6177 http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php http://www.haematologica.org/content/91/9/1264.full.pdf+html |