974 resultados para FH-77BW L52 Archer -tykistöasejärjestelmä


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Crise na Nase: Marco Maciel faz visita a presidente do Senado.

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Presidente do Senado enviou uma carta ao planalto criticando exclusão do senador.

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Entrevista de: Jorge Bastos Moreno.

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Relações Exteriores fica com PMDB, mas PSDB não vai abrir mão de presidir a Comissão Econômica.

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Ex-presidente evita cobranças de Roseane e Tasso.

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Aim: Familial Hypercholesterolemia (FH) is a common autosomal dominant disorder, caused by mutations in genes involved in cholesterol’s clearance (LDLR, APOB, PCSK 9). Clinical diagnosis is usually based on high total cholesterol or LDL-C levels and family history of premature coronary heart disease. Using an extended lipid profile of paediatric dyslipidemic patients, we aim to identify biomarkers for a better diagnosis of FH in clinical settings.

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Aims: Mutations in the LDLR gene are the major cause of familial hypercholesterolaemia (FH), which results in defective catabolism of LDL leading to premature coronary heart disease. Presently, more than 1700 different mutations in the LDLR gene have been described as causing FH but the majority of them remain without functional characterization. In the Portuguese Familial Hypercholesterolemia Study (PFHS), 123 LDLR alterations were found in 243 index patients and their relatives up to date. Until now, 70 of these alterations already have a final classification of pathogenic and 15 have been proved by in vitro studies to be non-pathogenic. The aim of the present work is to functionally characterize 16 LDLR missense alterations found in Portuguese FH patients and worldwide.

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Mode of access: Internet.

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Mode of access: Internet.