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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

Editor-in-Chief: Plebani, Mario

Ed. by Gillery, Philippe / Greaves, Ronda / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Payne, Deborah A. / Schlattmann, Peter


IMPACT FACTOR 2018: 3.638

CiteScore 2018: 2.44

SCImago Journal Rank (SJR) 2018: 1.191
Source Normalized Impact per Paper (SNIP) 2018: 1.205

Online
ISSN
1437-4331
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Volume 57, Issue 2

Issues

Genetic polymorphisms and variants in the LDL receptor associated with familial hypercholesterolemia: cascade screening and identification of the variants 666C>A, 862G>A, 901G>A, and 919G>A of a Brazilian family

Heloisa Pamplona-Cunha
  • Post-Graduate Program in Pharmacy, Federal University of Santa Catarina, Centro de Ciências da Saúde, Departamento de Análises Clínicas, Florianópolis, Santa Catarina, Brazil
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Elizandra Campos
  • Graduate Course in Pharmacy, Federal University of Santa Catarina, Centro de Ciências da Saúde, Departamento de Análises Clínicas, Florianópolis, Santa Catarina, Brazil
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Marina V. de Oliveira
  • Graduate Course in Pharmacy, Federal University of Santa Catarina, Centro de Ciências da Saúde, Departamento de Análises Clínicas, Florianópolis, Santa Catarina, Brazil
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Isabela C. Back
  • Post-Graduate Program in Collective Health, Federal University of Santa Catarina, Centro de Ciências da Saúde, Departamento de Pediatria, Florianópolis, Santa Catarina, Brazil
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Thaís C.M. Sincero
  • Post-Graduate Program in Pharmacy, Federal University of Santa Catarina, Centro de Ciências da Saúde, Departamento de Análises Clínicas, Florianópolis, Santa Catarina, Brazil
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Edson L. da Silva
  • Corresponding author
  • Post-Graduate Program in Pharmacy, Federal University of Santa Catarina, Centro de Ciências da Saúde, Departamento de Análises Clínicas, Bloco J/K. Rua Delfino Conti, s/n – Campus Universitário – Trindade, 88.040-370, Florianópolis, Santa Catarina, Brazil
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Published Online: 2018-07-17 | DOI: https://doi.org/10.1515/cclm-2018-0307

References

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    Defesche JC, Schurrman EJ, Klaaijsen LN, Khoo KL, Wiegman A, Stalenhoef AF. Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing. Clin Genet 2008;73:573–8.Web of SciencePubMedCrossrefGoogle Scholar

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    Hartgers ML, Defesche JC, Langslet G, Hopkins PN, Kastelein JJ, Baccara-Dinet MT. Alirocumab efficacy in patients with double heterozygous, compound heterozygous, or homozygous familial hypercholesterolemia. J Clin Lipidol 2018;12:390–6.PubMedCrossrefWeb of ScienceGoogle Scholar

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    Jannes CE, Santos RD, Silva PR, Turolla L, Gagliardi AC, Marsiglia JD, et al. Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects. Atherosclerosis 2015;238:101–7.CrossrefPubMedWeb of ScienceGoogle Scholar

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    Molfetta GA, Zanette DL, Santos JE, Silva WA. Mutational screening in the LDLR gene among patients presenting familial hypercholesterolemia in the southeast of Brazil. Genet Mol Res 2017;16:gmr16039226.Web of ScienceGoogle Scholar

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    Mehta R, Zubirán R, Martagón AJ, Vazquez-Cárdenas A, Segura-Kato Y, Tusié-Luna MT, et al. The panorama of familial hypercholesterolemia in Latin America: a systematic review. J Lipid Res 2016;57:2115–29.Web of ScienceCrossrefPubMedGoogle Scholar

About the article

Received: 2018-03-22

Accepted: 2018-06-17

Published Online: 2018-07-17

Published in Print: 2018-12-19


Author contributions: All authors were involved in protocol development, Institutional Review Board approval and patient recruitment. HPC conceived and carried out experiments, analyzed data and wrote the paper. EC helped with sample and data collections and molecular analysis. MVO helped with sample and data collections and molecular analysis. TCMS supervised molecular analysis. ICB conceived the study and supervised patient recruitment. ELS conceived the study, supervised experiments and data analyses and wrote the paper. All authors reviewed and edited the manuscript and approved the definitive version of the manuscript. All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

Research funding: None declared.

Employment or leadership: None declared.

Honorarium: None declared.

Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.


Citation Information: Clinical Chemistry and Laboratory Medicine (CCLM), Volume 57, Issue 2, Pages e23–e26, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: https://doi.org/10.1515/cclm-2018-0307.

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