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

1. Fernández-Higuero, J.A.
2. Etxebarria, A.
3. Benito-Vicente, A.
4. Alves, A.C.
5. Arrondo, J.L.R.
6. Ostolaza, H.
7. Bourbon, M.
8. Martin, C.

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DOI: 10.1038/SREP18184 GOOGLE SCHOLAR lock_openOpen access editor

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