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

Familial hypercholesterolaemia (FH) is an inherited autosomal dominant disorder resulting from defects in the low-density lipoprotein receptor (LDLR), in the apolipoprotein B (APOB) or in the proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. In the majority of the cases FH is caused by mu...

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Publicat a:Sci Rep
Autors principals: Fernández-Higuero, J. A., Etxebarria, A., Benito-Vicente, A., Alves, A. C., Arrondo, J. L. R., Ostolaza, H., Bourbon, M., Martin, C.
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2015
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4672294/
https://ncbi.nlm.nih.gov/pubmed/26643808
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep18184
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