The dystrophinopathies in Costa Rica
Kaydedildi:
Yazar: | |
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Materyal Türü: | artículo original |
Durum: | Versión publicada |
Yayın Tarihi: | 2004 |
Diğer Bilgiler: | 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. |
Ülke: | Portal de Revistas UCR |
Kurum: | Universidad de Costa Rica |
Repositorio: | Portal de Revistas UCR |
Dil: | Inglés |
OAI Identifier: | oai:portal.ucr.ac.cr:article/15286 |
Online Erişim: | https://revistas.ucr.ac.cr/index.php/rbt/article/view/15286 |
Access Level: | acceso abierto |
Anahtar Kelime: | muscular dystrophy duchenne becker X chromosome carriers deletions haplotypes distrofia muscula cromosoma X portadoras deleciones haplotipos |