Listar por tema "heterozygote"

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  • The distribution and risk effect of GBA variants in a large cohort of PD patients from Colombia and Peru 
    Velez-Pardo, Carlos; Lorenzo-Betancor, Oswaldo; Jimenez-Del-Rio, Marlene; Moreno, Sonia; Lopera, Francisco; Cornejo-Olivas, Mario; Torres, Luis; Inca-Martinez, Miguel; Mazzetti, Pilar; Cosentino, Carlos; Yearout, Dora; Waldherr, Sarah M.; Zabetian, Cyrus P.; Mata, Ignacio F. (Elsevier, 2019)
    Background: Mutations in the glucocerebrosidase (GBA) gene are an important risk factor for Parkinson's disease (PD). However, most GBA genetic studies in PD have been performed in patients of European origin and very few ...
  • Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study 
    García Castaño, A.; Pérez de Nanclares, G.; Madariaga, L.; Aguirre, M.; Chocron, S.; Madrid, A.; Lafita Tejedor, F.J.; Gil Campos, M.; Sánchez del Pozo, J.; Ruiz Cano, R.; Espino, M.; Gomez Vida, J.M.; Santos, F.; García Nieto, V.M.; Loza, R.; Rodríguez, L.M.; Hidalgo Barquero, E.; Printza, N.; Camacho, J.A.; Castaño, L.; Ariceta, G.; RenalTube Group (Springer, 2015)
    Molecular diagnosis is a useful diagnostic tool in primary nephrogenic diabetes insipidus (NDI), an inherited disease characterized by renal inability to concentrate urine. The AVPR2 and AQP2 genes were screened for mutations ...

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