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


Journal article


J. Fernández-Higuero, A. Etxebarria, A. Benito-Vicente, A. Alves, J. Arrondo, H. Ostolaza, M. Bourbon, C. Martin
Scientific reports, vol. 5, 2015 Dec 8, p. 18184


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APA   Click to copy
Fernández-Higuero, J., Etxebarria, A., Benito-Vicente, A., Alves, A., Arrondo, J., Ostolaza, H., … Martin, C. (2015). Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity. Scientific Reports, 5, 18184. https://doi.org/10.1038/srep18184


Chicago/Turabian   Click to copy
Fernández-Higuero, J., A. Etxebarria, A. Benito-Vicente, A. Alves, J. Arrondo, H. Ostolaza, M. Bourbon, and C. Martin. “Structural Analysis of APOB Variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), Causing Familial Hypercholesterolaemia Provides Novel Insights into Variant Pathogenicity.” Scientific reports 5 (December 8, 2015): 18184.


MLA   Click to copy
Fernández-Higuero, J., et al. “Structural Analysis of APOB Variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), Causing Familial Hypercholesterolaemia Provides Novel Insights into Variant Pathogenicity.” Scientific Reports, vol. 5, Dec. 2015, p. 18184, doi:10.1038/srep18184.


BibTeX   Click to copy

@article{j2015a,
  title = {Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity},
  year = {2015},
  month = dec,
  day = {8},
  journal = {Scientific reports},
  pages = {18184},
  volume = {5},
  doi = {10.1038/srep18184},
  author = {Fernández-Higuero, J. and Etxebarria, A. and Benito-Vicente, A. and Alves, A. and Arrondo, J. and Ostolaza, H. and Bourbon, M. and Martin, C.},
  month_numeric = {12}
}


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