Mutazioak progranulina genean: eragiten duten klinika, patologia eta RNA mailako adierazpenaAlzualde Zuloaga, Ainhoa and Gorostidi Pagola, Ana and López de Munain Arregi, Adolfo and Martí Massó, José Félix and Otaegui Bichot, David and Ruiz Martínez, Javier (2008) Mutazioak progranulina genean: eragiten duten klinika, patologia eta RNA mailako adierazpena. Osasunaz. Cuadernos de Ciencias de la Salud (9). pp. 67-85. ISSN 1989-2012
Official URL: http://www.euskomedia.org/analitica/15445 Abstractillnesses which are classified within those of dementia. In this work we present the clinical analysis, molecular and pathologic, of a series of patients who suffer from FLD. Among the 72 patients we found 4 different mutations and 14 mutated patients. In addition we have measured the level of representation of the PGRN gene which is found in the blood cells and we have demonstrated that it can be used as a biological indicator of the illness.
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