TY  - GEN 
AU  - Medina Carmona, Encarnación
AU  - Betancor-Fernández, Isabel
AU  - Santos, Jaime
AU  - Mesa Torres, Noel
AU  - Grottelli, Silvia
AU  - Batlle, Cristina
AU  - Naganathan, Athi N.
AU  - Oppici, Elisa
AU  - Cellini, Barbara
AU  - Ventura, Salvador
AU  - Salido, Eduardo
AU  - Pey, Angel L.
PY  - 2019
UR  - https://hdl.handle.net/10481/104057
AB  - Most pathogenic missense mutations cause specific molecular phenotypes through protein destabilization. However, how protein destabilization is manifested as a given molecular phenotype is not well understood. We develop here a structural and...
LA  - eng
PB  - Oxford University Press
TI  - Insight into the specificity and severity of pathogenic mechanisms associated with missense mutations through experimental and structural perturbation analyses
DO  - 10.1093/hmg/ddy323
ER  -