Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis


Journal article


J. Chora, A. Medeiros, A. Alves, M. Bourbon
Genetics in Medicine, vol. 20(6), 2017, pp. 591-598


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APA   Click to copy
Chora, J., Medeiros, A., Alves, A., & Bourbon, M. (2017). Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis. Genetics in Medicine, 20(6), 591–598. https://doi.org/10.1038/gim.2017.151


Chicago/Turabian   Click to copy
Chora, J., A. Medeiros, A. Alves, and M. Bourbon. “Analysis of Publicly Available LDLR, APOB, and PCSK9 Variants Associated with Familial Hypercholesterolemia: Application of ACMG Guidelines and Implications for Familial Hypercholesterolemia Diagnosis.” Genetics in Medicine 20, no. 6 (2017): 591–598.


MLA   Click to copy
Chora, J., et al. “Analysis of Publicly Available LDLR, APOB, and PCSK9 Variants Associated with Familial Hypercholesterolemia: Application of ACMG Guidelines and Implications for Familial Hypercholesterolemia Diagnosis.” Genetics in Medicine, vol. 20, no. 6, 2017, pp. 591–98, doi:10.1038/gim.2017.151.


BibTeX   Click to copy

@article{j2017a,
  title = {Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis},
  year = {2017},
  issue = {6},
  journal = {Genetics in Medicine},
  pages = {591-598},
  volume = {20},
  doi = {10.1038/gim.2017.151},
  author = {Chora, J. and Medeiros, A. and Alves, A. and Bourbon, M.}
}


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