Timely diagnosis of Wilson's disease using whole exome sequencing

dc.creatorRodríguez Quiroga, Sergio Alejandro
dc.creatorRosales, Julieta
dc.creatorArakaki, Tomoko
dc.creatorCórdoba, Marta
dc.creatorGonzalez Moron, Dolores
dc.creatorMedina, Nancy
dc.creatorGarreto, Nélida S.
dc.creatorKauffman, Marcelo Andres
dc.date.accessioned2017-06-07T23:59:43Z
dc.date.accessioned2018-11-06T13:31:35Z
dc.date.available2017-06-07T23:59:43Z
dc.date.available2018-11-06T13:31:35Z
dc.date.created2017-06-07T23:59:43Z
dc.date.issued2015-11
dc.identifierRodríguez Quiroga, Sergio Alejandro; Rosales, Julieta; Arakaki, Tomoko; Córdoba, Marta; Gonzalez Moron, Dolores; et al.; Timely diagnosis of Wilson's disease using whole exome sequencing; Elsevier; Parkinsonism & Related Disorders; 21; 11; 11-2015; 1375-1377
dc.identifier1353-8020
dc.identifierhttp://hdl.handle.net/11336/17745
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1876342
dc.description.abstractWilson's disease (WD) is a rare inborn error of copper metabolism caused by mutations in ATP7B gene. Although there is no genetic heterogeneity in WD etiology, the widespread clinical presentation of WD makes its diagnosis not always straightforward, particularly when atypical symptoms are present and a number of differential diagnoses must be considered.
dc.languageeng
dc.publisherElsevier
dc.relationinfo:eu-repo/semantics/altIdentifier/url/http://www.sciencedirect.com/science/article/pii/S1353802015004204
dc.relationinfo:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1016/j.parkreldis.2015.09.031
dc.rightshttps://creativecommons.org/licenses/by-nc-nd/2.5/ar/
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.subjectWilson's disease
dc.subjectNeurogenetics
dc.subjectATP7B gene
dc.subjectNext-generation-sequencing
dc.subjectExome sequencing
dc.titleTimely diagnosis of Wilson's disease using whole exome sequencing
dc.typeArtículos de revistas
dc.typeArtículos de revistas
dc.typeArtículos de revistas


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