dc.contributor.author |
Van Rensburg, J.
|
|
dc.contributor.author |
Alessandrini, Marco
|
|
dc.contributor.author |
Stewart, Cheryl
|
|
dc.contributor.author |
Pepper, Michael Sean
|
|
dc.date.accessioned |
2018-11-29T05:15:28Z |
|
dc.date.available |
2018-11-29T05:15:28Z |
|
dc.date.issued |
2018-08 |
|
dc.description.abstract |
Cystic fibrosis (CF), one of the most commonly observed and diagnosed fatal monogenic disorders globally, was initially thought to affect
individuals of Caucasian/European descent almost exclusively. It is increasingly appreciated, however, that non-Caucasian populations
are also affected by this condition. Although this has been known in South Africa (SA) for over two decades, a large disparity still exists
in data pertaining to the different population groups in the country. This article seeks to highlight existing published data on CF in SA
populations and reflects on the means through which these have been generated over the years. Additionally, the article briefly discusses the
consequences of incomplete data and how this could potentially be addressed in the future through innovative and collaborative approaches. |
en_ZA |
dc.description.department |
Immunology |
en_ZA |
dc.description.librarian |
am2018 |
en_ZA |
dc.description.sponsorship |
The Institute for Cellular and Molecular
Medicine and the Genomics Research Institute of the University of
Pretoria, the South African Medical Research Council, and the National
Research Foundation of South Africa. |
en_ZA |
dc.description.uri |
http://www.samj.org.za |
en_ZA |
dc.identifier.citation |
Van Rensburg, J., Alessandrini, M., Stewart, C. et al. 2018, 'Cystic fibrosis in South Africa : a changing diagnostic paradigm', South African Medical Journal, vol. 108, no. 8, pp. 624-628. |
en_ZA |
dc.identifier.issn |
0256-9574 (print) |
|
dc.identifier.issn |
2078-5135 (online) |
|
dc.identifier.other |
10.7196/SAMJ.2018.v108i8.13225 |
|
dc.identifier.uri |
http://hdl.handle.net/2263/67395 |
|
dc.language.iso |
en |
en_ZA |
dc.publisher |
Health and Medical Publishing Group |
en_ZA |
dc.rights |
© 2018, South African Medical Association. All rights reserved. This article is licensed under a Creative Commons Attribution-NonCommercial Works License (CC BY-NC 3.0). |
en_ZA |
dc.subject |
Caucasian populations |
en_ZA |
dc.subject |
Diagnosed fatal monogenic disorders |
en_ZA |
dc.subject |
South Africa (SA) |
en_ZA |
dc.subject |
Cystic fibrosis (CF) |
en_ZA |
dc.title |
Cystic fibrosis in South Africa : a changing diagnostic paradigm |
en_ZA |
dc.type |
Article |
en_ZA |