ADAPTATION OF ACMG/AMP GUIDELINES FOR STANDARDIZED VARIANT INTERPRETATION IN FAMILIAL HYPERCHOLESTEROLEMIA

被引：0

作者：

Iacocca, Michael A. ^{[1
]}

Chora, Joana ^{[2
]}

Carrie, Alain ^{[3
]}

Leigh, Sarah E. ^{[4
]}

Tichy, Lukas ^{[5
]}

DiStefano, Marina T. ^{[6
]}

Defesche, Joep ^{[7
]}

Kurtz, C. L. ^{[8
]}

Sijbrands, Eric J. ^{[9
]}

Freiberger, Tomas ^{[10
]}

Hegele, Robert A. ^{[1
]}

Knowles, Joshua W. ^{[11
,12
]}

Bourbon, Mafalda ^{[2
]}

机构：

[1] Western Univ, Robarts Res Inst, Schulich Sch Med & Dent, London, ON, Canada

[2] Inst Nacl Saude Doutor Ricardo Jorge, Lisbon, Portugal

[3] Hop La Pitie Salpetriere, Paris, France

[4] Genom England, London, England

[5] Univ Hosp Brno, Ctr Mol Biol & Gene Therapy, Brno, Czech Republic

[6] Harvard Univ, Harvard Med Sch, Boston, MA 02115 USA

[7] Univ Amsterdam, Acad Med Ctr, Amsterdam, Netherlands

[8] Univ N Carolina, UNC Med Sch, Chapel Hill, NC USA

[9] Erasmus MC, Rotterdam, Netherlands

[10] Masaryk Univ, Ctr Cardiovasc Surg & Transplantat, Brno, Czech Republic

[11] FH Fdn, Palo Alto, CA USA

[12] Stanford Univ, Palo Alto, CA 94304 USA

来源：

ATHEROSCLEROSIS SUPPLEMENTS | 2018年 / 32卷

关键词：

D O I：

10.1016/j.atherosclerosissup.2018.04.153

中图分类号：

R6 [外科学];

学科分类号：

1002 ; 100210 ;

摘要：

P1.060

引用

页码：51 / 51

页数：1

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