Single allele double mutants in heterozygous familial hypercholesterolemia: [formula omitted], D. Briffaut 1, O. Khallouf 1, J.P. Rabes 2, J.P. Girardet 3, A. Fredenrich 4, P. Moulin 5, Y. Reznik 6, B. Vialettes 7, J.L. De Gennes 8, E. Bruckert 9. 1Department of Biochemistry and Molecular Biology, Hôpital Saint Antoine, Paris; 2Department of Biochemistry, Ambroise Paré Hospital, Boulogne Billancourt; 3Department of Pediatrics, Trousseau Hospital, Paris; 4Department of Metabolic Diseases, Pasteur Hospital, Nice; 5Department of Metabolic Diseases, Antiquaille Hospital, Lyon; 6Department of Metabolic Diseases, Cote de Nacre Hospital, Caen; 7Department of Metabolic Diseases, Sainte Marguerite Hospital, Marseille; 8Department of Metabolic Diseases, Pitié Salpétrière Hospital, Paris, France

Publikováno v: In Atherosclerosis (Supplements) (Component) 2002 3(2):67-68

High burden of recurrent cardiovascular events in heterozygous familial hypercholesterolemia: The French Familial Hypercholesterolemia Registry

Autor: Sophie Béliard, Franck Boccara, Bertrand Cariou, Alain Carrié, Xavier Collet, Michel Farnier, Jean Ferrières, Michael Krempf, Noël Peretti, Jean-Pierre Rabès, Mathilde Varret, Alexandre Vimont, Sybil Charrière, Eric Bruckert, D. Angoulvant, S. Béliard, P. Benlian, C. Boileau, F. Boccara, E. Bruckert, B. Cariou, V. Carreau, A. Carrié, S. Charrière, M. Di Filippo, P.H. Ducluzeau, S. Dulong, V. Durlach, M. Farnier, E. Ferrari, J. Ferrières, A. Gallo, J.P. Girardet, R. Hankard, M. Krempf, J.D. Lalau, B. Lefort, J. Lemale, P. Moulin, F. Paillard, N. Peretti, A. Pradignac, Y. Pucheu, J.P. Rabès, S. Saheb, A. Sultan, P. Tounian, R. Valéro, M. Varret, B. Vergès, C. Yelnik, O. Ziegler

Publikováno v: Atherosclerosis
Atherosclerosis, Elsevier, 2018, 277, pp.334-340. ⟨10.1016/j.atherosclerosis.2018.08.010⟩
Atherosclerosis, 2018, 277, pp.334--340
Atherosclerosis, 2018, 277, pp.334-340. ⟨10.1016/j.atherosclerosis.2018.08.010⟩

International audience; Background and aims: Cardiovascular risk is high in heterozygous familial hypercholesterolemia (HeFH). The objective of this study was to describe recurrent cardiovascular events in selected patients with HeFH attending lipid

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d52bc70657cbef040dc986f96f381e8
https://hal-amu.archives-ouvertes.fr/hal-01996274/document

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Familial ligand‐defective apolipoprotein B‐100: Simultaneous detection of the ARG3500→GLN and ARG3531→CYS mutations in a French population

Autor: J.P. Rabès, M. Varret, B. Saint‐Jore, D. Erlich, G. Jondeau, M. Krempf, P. Giraudet, C. Junien, C. Boileau

Publikováno v: Human Mutation. 10:160-163

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4c66fbd00bee80d8967db1481c73fc13
https://doi.org/10.1002/(sici)1098-1004(1997)10:2<160::aid-humu8>3.3.co

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