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Genetic study of atypical femoral fractures using exome sequencing in three affected sisters and three unrelated patients by Roca-Ayats, N, Falcó-Mascaró, M, García-Giralt, N, Cozar, M, Abril, JF, Quesada-Gómez, JM, Prieto-Alhambra, D, Nogués, X, Mellibovsky, L, Díez-Pérez, A, Grinberg, D, Balcells, S
Published 2018Journal article -
2
Functional effects of the p.Asp188Tyr mutation in the Geranylgeranyl Diphosphate Synthase (GGPS1) gene associated with bisphosphonate-related atypical femoral fractures by Roca-Ayats, N, Dunford, J, Ng, P, Garcia-Giralt, N, Cozar, M, Quesada-Gomez, J, Nogues, X, Prieto-Alhambra, D, Russell, R, Grinberg, D, Diez-Perez, A, Baron, R, Balcells, S
Published 2017Conference item -
3
Functional characterization of a GGPPS variant identified in atypical femoral fracture patients and delineation of the role of GGPPS in bone-relevant cell types by Roca-Ayats, N, Ng, P, Garcia-Giralt, N, Falcó-Mascaró, M, Cozar, M, Abril, J, Quesada Gómez, J, Prieto-Alhambra, D, Nogués, X, Dunford, J, Russell, R, Baron, R, Grinberg, D, Balcells, S, Díez-Pérez, A
Published 2018Journal article