The dystrophinopathies in Costa Rica
保存先:
| 著者: | |
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| フォーマット: | artículo original |
| 出版日付: | 2004 |
| その他の書誌記述: | 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. Rev. Biol. Trop. 52(3): 485- 490. Epub 2004 Dic 15. |
| 国: | Kérwá |
| 機関: | Universidad de Costa Rica |
| Repositorio: | Kérwá |
| OAI Identifier: | oai:kerwa.ucr.ac.cr:10669/533 |
| オンライン･アクセス: | http://www.biologiatropical.ucr.ac.cr/intpages/vols/vol52-3.html http://revistas.ucr.ac.cr/index.php/rbt/article/view/15286 https://hdl.handle.net/10669/533 http://dx.doi.org/10.15517/rbt.v1i2.15286 |
| キーワード: | Distrofia muscular Cromosoma X Haplotipos Muscular dystrophy X Chromosome Haplotypes Enfermedades genéticas |