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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.

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Title: 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.
Authors: Pamplona-Cunha H; Post-Graduate Program in Pharmacy, Federal University of Santa Catarina, Centro de Ciências da Saúde, Departamento de Análises Clínicas, Florianópolis, Santa Catarina, Brazil., Campos E; Graduate Course in Pharmacy, Federal University of Santa Catarina, Centro de Ciências da Saúde, Departamento de Análises Clínicas, Florianópolis, Santa Catarina, Brazil., de Oliveira MV; Graduate Course in Pharmacy, Federal University of Santa Catarina, Centro de Ciências da Saúde, Departamento de Análises Clínicas, Florianópolis, Santa Catarina, Brazil., Back IC; Post-Graduate Program in Collective Health, Federal University of Santa Catarina, Centro de Ciências da Saúde, Departamento de Pediatria, Florianópolis, Santa Catarina, Brazil., Sincero TCM; Post-Graduate Program in Pharmacy, Federal University of Santa Catarina, Centro de Ciências da Saúde, Departamento de Análises Clínicas, Florianópolis, Santa Catarina, Brazil., da Silva EL; 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.
Source: Clinical chemistry and laboratory medicine [Clin Chem Lab Med] 2018 Dec 19; Vol. 57 (2), pp. e23-e26.
Publication Type: Letter
Journal Info: Publisher: Walter De Gruyter Country of Publication: Germany NLM ID: 9806306 Publication Model: Print Cited Medium: Internet ISSN: 1437-4331 (Electronic) Linking ISSN: 14346621 NLM ISO Abbreviation: Clin Chem Lab Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1437-4331
DOI:10.1515/cclm-2018-0307