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Title: | Method for detecting hereditary hemorrhagic telangiectasia |
Other Titles: | Método de detección de la telangiectasia hemorrágica hereditaria | Authors: | Ojeda-Fernández, María Luisa CSIC; Botella, Luisa María CSIC ORCID ; Barrios, Laura CSIC ORCID | Keywords: | Telangiectasia Hemorrágica Hereditaria (HHT) Genética |
Issue Date: | 14-May-2010 | Citation: | WO2010052357 A1 | Abstract: | [EN] Method for detecting hereditary hemorrhagic telangiectasia (HHT) comprising analysis in vitro of the products of
the expression of genes ENG or FLTl and ENG or ANGPT2 in biological samples from patients which moreover permits
subclassifymg variants HHTl and HHT2 of the disorder. In particular the present invention relates to a kit for molecular detection of HHT capable of realising the aforementioned detection. [ES] Método para la detección de la Telangiectasia Hemorrágica Hereditaria (HHT) que comprende el análisis in vitro de los productos de la expresión de los genes ENG o FLT1 y ENG o ANGPT2 en muestras biológicas de pacientes y que, además, permite sub-clasificar las variantes HHT1 y HHT2 de la enfermedad. En particular, la presente invención se refiere a un kit para la detección molecular de HHT capaz de llevar a cabo la detección mencionada anteriormente. |
URI: | http://hdl.handle.net/10261/28228 |
Appears in Collections: | (SGAI) Patentes (CIB) Patentes |
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WO2010052357A1.pdf | 1,45 MB | Adobe PDF | View/Open |
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