Systematic review of LDLR mutations associated to familial hypercholesterolaemia - evidence of functional studies and application of ACMG guidelines for FH diagnosis.


Poster presented at the 85th European Atherosclerosis Society Congress. Prague, Czechia on 23-26 April 2017


J. Chora, A. Alves, A. Medeiros, M. Bourbon
Atherosclerosis, vol. 263, 2017 Aug 1, pp. E221


Semantic Scholar DOI PubMed
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APA   Click to copy
Chora, J., Alves, A., Medeiros, A., & Bourbon, M. (2017). Systematic review of LDLR mutations associated to familial hypercholesterolaemia - evidence of functional studies and application of ACMG guidelines for FH diagnosis. In Atherosclerosis (Vol. 263, p. E221). https://doi.org/10.1016/j.atherosclerosis.2017.06.720


Chicago/Turabian   Click to copy
Chora, J., A. Alves, A. Medeiros, and M. Bourbon. “Systematic Review of LDLR Mutations Associated to Familial Hypercholesterolaemia - Evidence of Functional Studies and Application of ACMG Guidelines for FH Diagnosis.” In Atherosclerosis, 263:E221, 2017.


MLA   Click to copy
Chora, J., et al. “Systematic Review of LDLR Mutations Associated to Familial Hypercholesterolaemia - Evidence of Functional Studies and Application of ACMG Guidelines for FH Diagnosis.” Atherosclerosis, vol. 263, 2017, p. E221, doi:10.1016/j.atherosclerosis.2017.06.720.


BibTeX   Click to copy

@conference{j2017a,
  title = {Systematic review of LDLR mutations associated to familial hypercholesterolaemia - evidence of functional studies and application of ACMG guidelines for FH diagnosis.},
  year = {2017},
  month = aug,
  day = {1},
  journal = {Atherosclerosis},
  pages = {E221},
  volume = {263},
  doi = {10.1016/j.atherosclerosis.2017.06.720},
  author = {Chora, J. and Alves, A. and Medeiros, A. and Bourbon, M.},
  month_numeric = {8}
}


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