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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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  Data: 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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  Data: <searchLink fieldCode="AU" term="%22Pamplona-Cunha+H%22">Pamplona-Cunha H</searchLink>; Post-Graduate Program in Pharmacy, Federal University of Santa Catarina, Centro de Ciências da Saúde, Departamento de Análises Clínicas, Florianópolis, Santa Catarina, Brazil.<br /><searchLink fieldCode="AU" term="%22Campos+E%22">Campos E</searchLink>; Graduate Course in Pharmacy, Federal University of Santa Catarina, Centro de Ciências da Saúde, Departamento de Análises Clínicas, Florianópolis, Santa Catarina, Brazil.<br /><searchLink fieldCode="AU" term="%22de+Oliveira+MV%22">de Oliveira MV</searchLink>; Graduate Course in Pharmacy, Federal University of Santa Catarina, Centro de Ciências da Saúde, Departamento de Análises Clínicas, Florianópolis, Santa Catarina, Brazil.<br /><searchLink fieldCode="AU" term="%22Back+IC%22">Back IC</searchLink>; Post-Graduate Program in Collective Health, Federal University of Santa Catarina, Centro de Ciências da Saúde, Departamento de Pediatria, Florianópolis, Santa Catarina, Brazil.<br /><searchLink fieldCode="AU" term="%22Sincero+TCM%22">Sincero TCM</searchLink>; Post-Graduate Program in Pharmacy, Federal University of Santa Catarina, Centro de Ciências da Saúde, Departamento de Análises Clínicas, Florianópolis, Santa Catarina, Brazil.<br /><searchLink fieldCode="AU" term="%22da+Silva+EL%22">da Silva EL</searchLink>; 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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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Walter+De+Gruyter%22">Walter De Gruyter </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>9806306 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1437-4331 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214346621%22">14346621 </searchLink><i>NLM ISO Abbreviation: </i>Clin Chem Lab Med <i>Subsets: </i>MEDLINE
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        Value: 10.1515/cclm-2018-0307
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        Text: English
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      – TitleFull: 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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              Text: 2018 Dec 19
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