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Browsing by Author Fuentes-Prior, Pablo

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closedAccessaccesoRestringido.pdf.jpgDec-2018A rare STAP1 mutation incompletely associated with familial hypercholesterolemiaBlanco-Vaca, Francisco; Martín-Campos, Jesús M.; Pérez, Antonio; Fuentes-Prior, PabloArtículo
closedAccessaccesoRestringido.pdf.jpgOct-2008Confirmation of inherited protein S deficiency by PROS1 mutational screening: Identification of three novel PROS1 mutations and haplotype analysis of p.Q279X recurrenceHurtado Villarejo, Begoña ; Domènech-Santasusana, Pere; Fuentes-Prior, Pablo; García de Frutos, Pablo ; Sala, NúriaArtículo
openAccessisolation.pdf.jpg20-Feb-2008Isolation, cloning and structural characterisation of boophilin, a multifunctional kunitz-type proteinase inhibitor from the cattle tickMacedo-Ribeiro, Sandra; Almeida, Carla; Calisto, Barbara M.; Friedrich, Thomas; Mentele, Reinhard; Stürzebecher, Jörg; Fuentes-Prior, Pablo; Pereira, Pedro José BarbosaArtículo
closedAccessaccesoRestringido.pdf.jpg2007Molecular basis of protein S deficiencyGarcía de Frutos, Pablo ; Fuentes-Prior, Pablo; Hurtado Villarejo, Begoña ; Sala, NúriaArtículo
closedAccessFeb-2009Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 geneAlías, Laura; Bernal, Sara; Fuentes-Prior, Pablo; Barceló, María Jesús; Also, Eva; Martínez-Hernández, Rebeca; Rodríguez-Álvarez, Francisco J.; Martín, Yolanda; Aller, Elena; Grau, Elena; Peciña, Ana; Antiñolo, Guillermo ; Galán, Enrique; Rosa, Alberto L.; Fernández-Burriel, Miguel; Borrego, Salud ; Millán, José M.; Hernández-Chico, Concepción; Baiget, Montserrat; Tizzano, Eduardo F.Artículo
openAccess2013 Plos One 008-e74203.pdf.jpg17-Sep-2013Rare Variants in Calcium Homeostasis Modulator 1 (CALHM1) Found in Early Onset Alzheimer's Disease Patients Alter Calcium HomeostasisRubio-Moscardo, Fanny; Setó-Salvia, Núria; Pera, Marta; Bosch-Morató, Mònica; Plata, Cristina; Belbin, Olivia; Gené, Gemma; Dols-Icardo, Oriol; Ingelsson, Martin; Helisalmi, Seppo; Soininen, Hilkka; Hiltunen, Mikko; Giedraitis, Vilmantas; Lannfelt, Lars; Frank, Ana; Bullido, María Jesús ; Combarros, Onofre; Sánchez-Juan, Pascual; Boada, Mercè; Tárraga, Lluís; Pastor, Pau; Pérez-Tur, Jordi  ; Baquero, Miquel; Molinuevo, José L.; Sánchez-Valle, Raquel; Fuentes-Prior, Pablo; Fortea, Juan; Blesa, Rafael; Muñoz, Francisco J.; Lleó, Alberto; Valverde, Miguel A.; Clarimón, JordiArtículo