%0 Journal Article
%T The dystrophinopathies in Costa Rica
%A Azofeifa
%A Jorge
%J Revista de Biolog¨ªa Tropical
%D 2004
%I Universidad de Costa Rica
%X 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.
%K muscular dystrophy
%K duchenne
%K becker
%K x chromosome
%K carriers
%K deletions
%K haplotypes.
%U http://www.scielo.sa.cr/scielo.php?script=sci_abstract&pid=S0034-77442004000300009&lng=en&nrm=iso&tlng=en