Timely diagnosis of Wilson's disease using whole exome sequencing
Wilson'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 pres...
| Autores: | , , , , , , , |
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| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2015 |
| País: | Argentina |
| Institución: | Consejo Nacional de Investigaciones Científicas y Técnicas |
| Repositorio: | CONICET Digital (CONICET) |
| Idioma: | inglés |
| OAI Identifier: | oai:ri.conicet.gov.ar:11336/17745 |
| Acceso en línea: | http://hdl.handle.net/11336/17745 |
| Access Level: | acceso abierto |
| Palabra clave: | Wilson'S Disease Neurogenetics Atp7b Gene Next-Generation-Sequencing Exome Sequencing https://purl.org/becyt/ford/3.2 https://purl.org/becyt/ford/3 |
| Sumario: | Wilson'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. |
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