The dystrophinopathies in Costa Rica
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| Autor: | |
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| Format: | artículo original |
| Status: | Versión publicada |
| Data wydania: | 2004 |
| Opis: | A five-years long study aiming to describe the basic genetic epidemiology of the dystrophinopathies in Costa Rica recruited 31 patients with clinical symptoms of DMD/BMD at the National Children’s Hospital (HNN). This center is the obligate reference hospital of the national health system for genetic diseases, however, the geographic origin of the patients, a low percentage of deletions and a high proportion of de novo mutations found among them indicate that a significant ascertainment bias impedes a substantial scientific approach to confront and alleviate the problems posed by these severe diseases in Costa Rica. |
| Kraj: | Portal de Revistas UCR |
| Instytucja: | Universidad de Costa Rica |
| Repositorio: | Portal de Revistas UCR |
| Język: | Inglés |
| OAI Identifier: | oai:portal.ucr.ac.cr:article/15286 |
| Dostęp online: | https://revistas.ucr.ac.cr/index.php/rbt/article/view/15286 |
| Słowo kluczowe: | muscular dystrophy duchenne becker X chromosome carriers deletions haplotypes distrofia muscula cromosoma X portadoras deleciones haplotipos |