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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Detalles Bibliográficos
Autores principales: Fernández-Higuero, J. A., Etxebarria, A., Benito-Vicente, A., Alves, A. C., Arrondo, J. L. R., Ostolaza, H., Bourbon, M., Martin, C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4672294/
https://www.ncbi.nlm.nih.gov/pubmed/26643808
http://dx.doi.org/10.1038/srep18184

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4672294/
https://www.ncbi.nlm.nih.gov/pubmed/26643808
http://dx.doi.org/10.1038/srep18184

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