The dystrophinopathies in Costa Rica

dc.creator	Azofeifa,Jorge
dc.date	2004-09-01
dc.date.accessioned	2023-09-25T14:00:57Z
dc.date.available	2023-09-25T14:00:57Z
dc.identifier	http://www.scielo.sa.cr/scielo.php?script=sci_arttext&pid=S0034-77442004000300009
dc.identifier.uri	https://repositorioslatinoamericanos.uchile.cl/handle/2250/8810527
dc.description	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.
dc.format	text/html
dc.language	en
dc.publisher	Universidad de Costa Rica
dc.rights	info:eu-repo/semantics/openAccess
dc.source	Revista de Biología Tropical v.52 n.3 2004
dc.subject	Muscular dystrophy
dc.subject	Duchenne
dc.subject	Becker
dc.subject	X chromosome
dc.subject	carriers
dc.subject	deletions
dc.subject	haplotypes
dc.title	The dystrophinopathies in Costa Rica
dc.type	info:eu-repo/semantics/article