Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia?

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Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia?

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年學術文章

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2018年學術文章

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2018年學術文章

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Usefulness of the genetic risk ...... familial hypercholesterolemia?

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Usefulness of the genetic risk ...... familial hypercholesterolemia?

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Usefulness of the genetic risk ...... familial hypercholesterolemia?

@en

Usefulness of the genetic risk ...... familial hypercholesterolemia?

@nl

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Usefulness of the genetic risk ...... familial hypercholesterolemia?

@en

Usefulness of the genetic risk ...... familial hypercholesterolemia?

@nl

P1476

Usefulness of the genetic risk ...... familial hypercholesterolemia?

@en

P2093

Alain Carrié

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Eric Bruckert

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Gérald Luc

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Harout Iliozer

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Jean-Pierre Rabès

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Marianne Abifadel

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Mathilde Di-Filippo

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Michel Farnier

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Petra El Khoury

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Philippe Moulin

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P2860

Biological, clinical and population relevance of 95 loci for blood lipids

Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

A receptor-mediated pathway for cholesterol homeostasis

Sequence variations in PCSK9, low LDL, and protection against coronary heart disease

Exome sequencing in suspected monogenic dyslipidemias.

Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations

Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia.

Molecular spectrum of autosomal dominant hypercholesterolemia in France.

Identification of the Functional Variant(s) that Explain the Low-Density Lipoprotein Receptor (LDLR) GWAS SNP rs6511720 Association with Lower LDL-C and Risk of CHD.

P2888

s41431-017-0078-y

P304

570-578

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P31

scholarly article

P356

10.1038/S41431-017-0078-Y

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P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Mathilde Varret

Catherine Boileau

Youmna Ghaleb

P577

2018-01-26T00:00:00Z

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P698

29374275

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P921

hypercholesterolemia

P932

5891487

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