Whole exome/genome sequencing joint analysis in a family with oligogenic familial hypercholesterolemia

被引：0

作者：

Ghaleb, Youmna ^{[1
,2
]}

Elbitar, Sandy ^{[1
,2
]}

Philippi, Anne ^{[3
]}

El Khoury, Petra ^{[1
,2
]}

Azar, Yara ^{[1
,2
,4
]}

Andrianirina, Miangaly ^{[1
]}

Loste, Alexia ^{[1
,4
]}

Abou-khalil, Yara ^{[1
,2
,4
]}

Nicolas, Gael ^{[4
,5
]}

Le Borgne, Marie ^{[1
,4
]}

Moulin, Philippe ^{[6
,7
]}

Di Filippo, Mathilde ^{[7
,8
]}

Charriere, Sybil ^{[6
,7
]}

Farnier, Michel ^{[9
]}

Yelnik, Cecile ^{[10
,11
]}

Carreau, Valerie ^{[12
]}

Ferrieres, Jean ^{[13
,14
]}

Lecerf, Jean-Michel ^{[15
]}

Derksen, Alexa ^{[16
,18
]}

Bernard, Genevieve ^{[16
,18
,19
]}

Gauthier, Marie-Soleil ^{[17
]}

Coulombe, Benoit ^{[17
,20
]}

Dieter, Lutjohann ^{[21
]}

Fin, Bertrand ^{[22
,23
]}

Boland, Anne ^{[22
,23
]}

Olaso, Robert ^{[22
,23
]}

Deleuze, Jean-Francois ^{[22
,23
,24
]}

Rabes, Jean-Pierre ^{[1
,25
]}

Boileau, Catherine ^{[1
,4
,26
]}

Abifadel, Marianne ^{[1
,2
]}

Varret, Mathilde ^{[1
,4
]}

机构：

[1] Lab Vasc Translat Sci, INSERM, F-75018 Paris, France

[2] St Joseph Univ, LBTM, Fac Pharm, PTS, Beirut, Lebanon

[3] Univ Paris, Inst Cochin, INSERM U1016, CNRS UMR 8104, Paris, France

[4] Univ Paris, Paris, France

[5] CNRS, INSERM U1149, Ctr Rech linflammat, ERL 8252, Paris, France

[6] Hosp Civils Lyon, Louis Pradel Cardiovasc Hosp, Dept Endocrinol Nutr & Metab Dis, Bron, France

[7] Univ Lyon 1, CarMen Lab, INSERM U1060, INRAE U1397, Lyon, France

[8] Dept Biochem & Mol Biol, Bron, France

[9] Univ Bourgogne Franche Comte, EA 7460 Physiopathol & Epidemiol Cerebro Cardiova, Dijon, France

[10] Ctr Reference Malad Autoimmunes Syst Rares Nord &, Dept Med Interne & Immunol Clin, Lille, France

[11] Univ Lille, U1167 Risk Factors & Mol Determinants Aging Relat, CHU Lille, Inserm, Lille, France

[12] La Pitie Salpetriere Hosp, AP HP, Dept Endocrinol & Prevent Cardiovasc Dis, Inst Cardio Metab & Nutr, Paris, France

[13] Toulouse Rangueil Univ Hosp, Dept Cardiol, Toulouse, France

[14] Toulouse Rangueil Univ Hosp, INSERM, UMR 1295, Toulouse, France

[15] Inst Pasteur, Nutr Dept, F-59019 Lille, France

[16] McGill Univ, Child Hlth & Human Dev Program, Res Inst, Ctr Hlth, Montreal, PQ, Canada

[17] Inst Rech Clin Montreal, Translat Prote Lab, Montreal, PQ, Canada

[18] McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada

[19] McGill Univ, Div Med Genet, Dept Specialized Med, Ctr Hlth, Montreal, PQ, Canada

[20] Univ Montreal, Dept Biochem & Mol Med, Montreal, PQ, Canada

[21] Univ Hosp Bonn, Inst Clin Chem & Clin Pharmacol, Bonn, Germany

[22] Univ Paris Saclay, Ctr Natl Rech Genom Humaine, CEA, F-91057 Evry, France

[23] Lab Excellence GENMED Med Genom, Evry, France

[24] Fondat Jean Dausset, Ctr dEtude Polymorphisme Humain, Paris, France

[25] Ambroise Pare Univ Hosp, APHP, Dept Biochem & Mol Genet, Paris, France

[26] Hop Bichat Claude Bernard, AP HP, Genet Dept, F-75018 Paris, France

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P06.018.D

引用

页码：408 / 409

页数：2

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