Strand-separating conformational polymorphism analysis: Efficacy of detection of point mutations in the human ornithine δ-aminotransferase gene
Michaud, J. ; Brody, L.C. ; Steel, G. ; Fontaine, G. ; Martin, L.S. ; Valle, D. ; Mitchell, G.
Amsterdam : Elsevier
Amsterdam : Elsevier
| ISSN: |
0888-7543
|
|---|---|
| Source: |
Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
|
| Topics: |
Biology
Medicine
|
| Type of Medium: |
Electronic Resource
|
| URL: |
| _version_ | 1798292085406695425 |
|---|---|
| autor | Michaud, J. Brody, L.C. Steel, G. Fontaine, G. Martin, L.S. Valle, D. Mitchell, G. |
| autorsonst | Michaud, J. Brody, L.C. Steel, G. Fontaine, G. Martin, L.S. Valle, D. Mitchell, G. |
| book_url | http://dx.doi.org/10.1016/0888-7543(92)90258-T |
| datenlieferant | nat_lic_papers |
| fussnote | We tested the use of a modified method of single-strand conformational polymorphism (SSCP) analysis for the detection of point mutations in the human ornithine-δ-aminotransferase gene. Using a combination of three different electrophoretic conditions, we detected 2020 known mutations. In a prospective study of 24 previously uncharacterized mutant OAT genes, we found 13 different mutations accounting for 19 (79% of the 24. We conclude that SSCP is an efficient technique with high sensitivity and specificity. |
| hauptsatz | hsatz_simple |
| identnr | NLZ184409489 |
| iqvoc_descriptor_title | iqvoc_00000708:analysis |
| issn | 0888-7543 |
| journal_name | Genomics |
| materialart | 1 |
| package_name | Elsevier |
| publikationsort | Amsterdam |
| publisher | Elsevier |
| reference | 13 (1992), S. 389-394 |
| search_space | articles |
| shingle_author_1 | Michaud, J. Brody, L.C. Steel, G. Fontaine, G. Martin, L.S. Valle, D. Mitchell, G. |
| shingle_author_2 | Michaud, J. Brody, L.C. Steel, G. Fontaine, G. Martin, L.S. Valle, D. Mitchell, G. |
| shingle_author_3 | Michaud, J. Brody, L.C. Steel, G. Fontaine, G. Martin, L.S. Valle, D. Mitchell, G. |
| shingle_author_4 | Michaud, J. Brody, L.C. Steel, G. Fontaine, G. Martin, L.S. Valle, D. Mitchell, G. |
| shingle_catch_all_1 | Michaud, J. Brody, L.C. Steel, G. Fontaine, G. Martin, L.S. Valle, D. Mitchell, G. Strand-separating conformational polymorphism analysis: Efficacy of detection of point mutations in the human ornithine δ-aminotransferase gene 0888-7543 08887543 Elsevier |
| shingle_catch_all_2 | Michaud, J. Brody, L.C. Steel, G. Fontaine, G. Martin, L.S. Valle, D. Mitchell, G. Strand-separating conformational polymorphism analysis: Efficacy of detection of point mutations in the human ornithine δ-aminotransferase gene 0888-7543 08887543 Elsevier |
| shingle_catch_all_3 | Michaud, J. Brody, L.C. Steel, G. Fontaine, G. Martin, L.S. Valle, D. Mitchell, G. Strand-separating conformational polymorphism analysis: Efficacy of detection of point mutations in the human ornithine δ-aminotransferase gene 0888-7543 08887543 Elsevier |
| shingle_catch_all_4 | Michaud, J. Brody, L.C. Steel, G. Fontaine, G. Martin, L.S. Valle, D. Mitchell, G. Strand-separating conformational polymorphism analysis: Efficacy of detection of point mutations in the human ornithine δ-aminotransferase gene 0888-7543 08887543 Elsevier |
| shingle_title_1 | Strand-separating conformational polymorphism analysis: Efficacy of detection of point mutations in the human ornithine δ-aminotransferase gene |
| shingle_title_2 | Strand-separating conformational polymorphism analysis: Efficacy of detection of point mutations in the human ornithine δ-aminotransferase gene |
| shingle_title_3 | Strand-separating conformational polymorphism analysis: Efficacy of detection of point mutations in the human ornithine δ-aminotransferase gene |
| shingle_title_4 | Strand-separating conformational polymorphism analysis: Efficacy of detection of point mutations in the human ornithine δ-aminotransferase gene |
| sigel_instance_filter | dkfz geomar wilbert ipn albert fhp |
| source_archive | Elsevier Journal Backfiles on ScienceDirect 1907 - 2002 |
| timestamp | 2024-05-06T08:42:54.371Z |
| titel | Strand-separating conformational polymorphism analysis: Efficacy of detection of point mutations in the human ornithine δ-aminotransferase gene |
| titel_suche | Strand-separating conformational polymorphism analysis: Efficacy of detection of point mutations in the human ornithine δ-aminotransferase gene We tested the use of a modified method of single-strand conformational polymorphism (SSCP) analysis for the detection of point mutations in the human ornithine-δ-aminotransferase gene. Using a combination of three different electrophoretic conditions, we detected 2020 known mutations. In a prospective study of 24 previously uncharacterized mutant OAT genes, we found 13 different mutations accounting for 19 (79% of the 24. We conclude that SSCP is an efficient technique with high sensitivity and specificity. |
| topic | W WW-YZ |
| uid | nat_lic_papers_NLZ184409489 |