Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity

por Fernández-Higuero, J. A., Etxebarria, A., Benito-Vicente, A., Alves, A. C., Arrondo, J. L. R., Ostolaza, H., Bourbon, M., Martin, C.
Publicado 2015

p.(Asp47Asn) and p.(Thr62Met): non deleterious LDL receptor missense variants functionally characterized in vitro

por Benito-Vicente, A., Siddiqi, H., Uribe, K. B., Jebari, S., Galicia-Garcia, U., Larrea-Sebal, A., Stef, M., Ostolaza, H., Palacios, L., Martin, C.
Publicado 2018

Replacement of cysteine at position 46 in the first cysteine-rich repeat of the LDL receptor impairs apolipoprotein recognition

por Benito-Vicente, A., Uribe, K. B., Siddiqi, H., Jebari, S., Galicia-Garcia, U., Larrea-Sebal, A., Cenarro, A., Stef, M., Ostolaza, H., Civeira, F., Palacios, L., Martin, C.
Publicado 2018