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.
Journal:
Scientific Reports

ISSN: 2045-2322

Year of publication: 2015

Volume: 5

Type: Article

DOI: 10.1038/SREP18184 GOOGLE SCHOLAR lock_openOpen access editor

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