The Spectrum of Genetic Causes of Familial Hypercholesterolemia Phenotype.

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Title: The Spectrum of Genetic Causes of Familial Hypercholesterolemia Phenotype.
Authors: Bourbon M; Unidade de Investigação e Desenvolvimento, Grupo de Investigação Cardiovascular, Departamento de Promoção da Saúde e Prevenção de Doenças Não Transmissíveis, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisbon, Portugal. mafalda.bourbon@insa.min-saude.pt.; Cardiovascular Centre of the University of Lisbon (CCUL), Faculty of Medicine, University of Lisbon, Lisbon, Portugal. mafalda.bourbon@insa.min-saude.pt., Alves AC; Unidade de Investigação e Desenvolvimento, Grupo de Investigação Cardiovascular, Departamento de Promoção da Saúde e Prevenção de Doenças Não Transmissíveis, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisbon, Portugal.; Cardiovascular Centre of the University of Lisbon (CCUL), Faculty of Medicine, University of Lisbon, Lisbon, Portugal., Chora JR; Unidade de Investigação e Desenvolvimento, Grupo de Investigação Cardiovascular, Departamento de Promoção da Saúde e Prevenção de Doenças Não Transmissíveis, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisbon, Portugal.; Cardiovascular Centre of the University of Lisbon (CCUL), Faculty of Medicine, University of Lisbon, Lisbon, Portugal., Hooper AJ; Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital and Fiona Stanley Hospital Network, University of Western Australia, Perth, WA, Australia., Abifadel M; Laboratory of Biochemistry and Molecular Therapeutics, Faculty of Pharmacy, Saint Joseph University of Beirut, Beirut, Lebanon.; Sorbonne Université, INSERM, Foundation for Innovation in Cardiometabolism and Nutrition (ICAN), UMR_S1166, Paris, France.
Source: Current atherosclerosis reports [Curr Atheroscler Rep] 2026 Jul 04; Vol. 28 (1). Date of Electronic Publication: 2026 Jul 04.
Publication Type: Journal Article; Review
Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 100897685 Publication Model: Electronic Cited Medium: Internet ISSN: 1534-6242 (Electronic) Linking ISSN: 15233804 NLM ISO Abbreviation: Curr Atheroscler Rep Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: The Spectrum of Genetic Causes of Familial Hypercholesterolemia Phenotype.
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  Data: <searchLink fieldCode="AU" term="%22Bourbon+M%22">Bourbon M</searchLink>; Unidade de Investigação e Desenvolvimento, Grupo de Investigação Cardiovascular, Departamento de Promoção da Saúde e Prevenção de Doenças Não Transmissíveis, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisbon, Portugal. mafalda.bourbon@insa.min-saude.pt.; Cardiovascular Centre of the University of Lisbon (CCUL), Faculty of Medicine, University of Lisbon, Lisbon, Portugal. mafalda.bourbon@insa.min-saude.pt.<br /><searchLink fieldCode="AU" term="%22Alves+AC%22">Alves AC</searchLink>; Unidade de Investigação e Desenvolvimento, Grupo de Investigação Cardiovascular, Departamento de Promoção da Saúde e Prevenção de Doenças Não Transmissíveis, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisbon, Portugal.; Cardiovascular Centre of the University of Lisbon (CCUL), Faculty of Medicine, University of Lisbon, Lisbon, Portugal.<br /><searchLink fieldCode="AU" term="%22Chora+JR%22">Chora JR</searchLink>; Unidade de Investigação e Desenvolvimento, Grupo de Investigação Cardiovascular, Departamento de Promoção da Saúde e Prevenção de Doenças Não Transmissíveis, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisbon, Portugal.; Cardiovascular Centre of the University of Lisbon (CCUL), Faculty of Medicine, University of Lisbon, Lisbon, Portugal.<br /><searchLink fieldCode="AU" term="%22Hooper+AJ%22">Hooper AJ</searchLink>; Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital and Fiona Stanley Hospital Network, University of Western Australia, Perth, WA, Australia.<br /><searchLink fieldCode="AU" term="%22Abifadel+M%22">Abifadel M</searchLink>; Laboratory of Biochemistry and Molecular Therapeutics, Faculty of Pharmacy, Saint Joseph University of Beirut, Beirut, Lebanon.; Sorbonne Université, INSERM, Foundation for Innovation in Cardiometabolism and Nutrition (ICAN), UMR_S1166, Paris, France.
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  Data: <searchLink fieldCode="JN" term="%22100897685%22">Current atherosclerosis reports</searchLink> [Curr Atheroscler Rep] 2026 Jul 04; Vol. 28 (1). <i>Date of Electronic Publication: </i>2026 Jul 04.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer%22">Springer </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>100897685 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1534-6242 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215233804%22">15233804 </searchLink><i>NLM ISO Abbreviation: </i>Curr Atheroscler Rep <i>Subsets: </i>MEDLINE
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        Value: 10.1007/s11883-026-01435-x
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      – Code: eng
        Text: English
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      – TitleFull: The Spectrum of Genetic Causes of Familial Hypercholesterolemia Phenotype.
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            – D: 04
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              Text: 2026 Jul 04
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              Y: 2026
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              Value: 28
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