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dc.contributor.authorGarcía, Susana
dc.contributor.authorHaro Muñoz, Tomás de 
dc.contributor.authorZafra-Ceres, Mercedes
dc.contributor.authorPoyatos, Antonio
dc.contributor.authorGómez Capilla, José Antonio 
dc.date.accessioned2015-03-16T13:49:32Z
dc.date.available2015-03-16T13:49:32Z
dc.date.issued2014
dc.identifier.citationGarcía, S.; et al. Identification of de novo Mutations of Duchénnè/Becker Muscular Dystrophies in Southern Spain. International Journal of Medical Sciences, 11(10): 988-933 (2014). [http://hdl.handle.net/10481/35280]es_ES
dc.identifier.issn1449-1907
dc.identifier.urihttp://hdl.handle.net/10481/35280
dc.description.abstractBackground: Duchénnè/Becker muscular dystrophies (DMD/BMD) are X-linked diseases, which are caused by a de novo gene mutation in one-third of affected males. The study objectives were to determine the incidence of DMD/BMD in Andalusia (Spain) and to establish the percentage of affected males in whom a de novo gene mutation was responsible.es_ES
dc.description.abstractMethods: Multiplex ligation-dependent probe amplification (MLPA) technology was applied to determine the incidence of DMD/BMD in 84 males with suspicion of the disease and 106 female relatives.es_ES
dc.description.abstractResults: Dystrophin gene exon deletion (89.5%) or duplication (10.5%) was detected in 38 of the 84 males by MLPA technology; de novo mutations account for 4 (16.7%) of the 24 mother-son pairs studied.es_ES
dc.description.abstractConclusions: MLPA technology is adequate for the molecular diagnosis of DMD/BMD and establishes whether the mother carries the molecular alteration responsible for the disease, a highly relevant issue for genetic counseling.es_ES
dc.description.sponsorshipCGLL has a postdoctoral fellowship from the Plan Propio of the University of Granada.es_ES
dc.language.isoenges_ES
dc.publisherIvysprin International Publisheres_ES
dc.rightsCreative Commons Attribution-NonCommercial-NoDerivs 3.0 Licensees_ES
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/es_ES
dc.subjectDuchénnè/Beckeres_ES
dc.subjectMultiplex Ligation-dependent Probe Amplification (MLPA)es_ES
dc.subjectDe novo mutationses_ES
dc.titleIdentification of de novo Mutations of Duchénnè/Becker Muscular Dystrophies in Southern Spaines_ES
dc.typeinfo:eu-repo/semantics/articlees_ES
dc.rights.accessRightsinfo:eu-repo/semantics/openAccesses_ES
dc.relation.publisherversionhttp://www.medsci.org/v11p0988.htmes_ES
dc.identifier.doi10.7150/ijms.8391


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