Molecular diagnosis of cystic fibrosis in South African populations
| dc.contributor.author | Leisegang, F | |
| dc.contributor.author | Westwood, A T R | |
| dc.date.accessioned | 2016-08-22T13:23:38Z | |
| dc.date.available | 2016-08-22T13:23:38Z | |
| dc.date.issued | 2003 | |
| dc.date.updated | 2015-12-22T08:49:01Z | |
| dc.description.abstract | Cystic fibrosis (CF) is present in all South African population groups. In a significant proportion of patients a diagnosis of CF can be confirmed by DNAanalysis and the detection of two CF transmembrane conductance regulator (CFTR) mutations, using the panels of mutations developed in this study. The index of suspicion will also be raised in patients with a single CFTR mutation. DNAtesting is important, especially in region s without access to reliable sweat tests, and should be considered an aid to diagnosis. In addition to receiving appropriate treatment, patients and their families can receive more accurate genetic counselling, CF carrier testing and prenatal diagnosis. | |
| dc.identifier.apacitation | Leisegang, F., & Westwood, A. T. R. (2003). Molecular diagnosis of cystic fibrosis in South African populations. <i>South African Medical Journal</i>, http://hdl.handle.net/11427/21445 | en_ZA |
| dc.identifier.chicagocitation | Leisegang, F, and A T R Westwood "Molecular diagnosis of cystic fibrosis in South African populations." <i>South African Medical Journal</i> (2003) http://hdl.handle.net/11427/21445 | en_ZA |
| dc.identifier.citation | A Goldman, A., Graf, C., Ramsay, M., Leisegang, F., & Westwood, A. T. R. (2003). Molecular diagnosis of cystic fibrosis in South African populations: scientific letter. South African Medical Journal, 93(7), p-518. | |
| dc.identifier.issn | 0256-9574 | |
| dc.identifier.ris | TY - Journal Article AU - Leisegang, F AU - Westwood, A T R AB - Cystic fibrosis (CF) is present in all South African population groups. In a significant proportion of patients a diagnosis of CF can be confirmed by DNAanalysis and the detection of two CF transmembrane conductance regulator (CFTR) mutations, using the panels of mutations developed in this study. The index of suspicion will also be raised in patients with a single CFTR mutation. DNAtesting is important, especially in region s without access to reliable sweat tests, and should be considered an aid to diagnosis. In addition to receiving appropriate treatment, patients and their families can receive more accurate genetic counselling, CF carrier testing and prenatal diagnosis. DA - 2003 DB - OpenUCT DP - University of Cape Town J1 - South African Medical Journal LK - https://open.uct.ac.za PB - University of Cape Town PY - 2003 SM - 0256-9574 T1 - Molecular diagnosis of cystic fibrosis in South African populations TI - Molecular diagnosis of cystic fibrosis in South African populations UR - http://hdl.handle.net/11427/21445 ER - | en_ZA |
| dc.identifier.uri | http://hdl.handle.net/11427/21445 | |
| dc.identifier.vancouvercitation | Leisegang F, Westwood ATR. Molecular diagnosis of cystic fibrosis in South African populations. South African Medical Journal. 2003; http://hdl.handle.net/11427/21445. | en_ZA |
| dc.language.iso | eng | |
| dc.publisher.department | Department of Anaesthesia | en_ZA |
| dc.publisher.faculty | Faculty of Health Sciences | en_ZA |
| dc.publisher.institution | University of Cape Town | |
| dc.source | South African Medical Journal | |
| dc.source.uri | http://www.samj.org.za/index.php/samj | |
| dc.title | Molecular diagnosis of cystic fibrosis in South African populations | |
| dc.type | Journal Article | en_ZA |
| uct.type.filetype | Text | |
| uct.type.filetype | Image | |
| uct.type.publication | Research | en_ZA |
| uct.type.resource | Article | en_ZA |