Publication
Specification of ACMG/AMP guidelines for standardized variant interpretation in familial hypercholesterolemia: On behalf of the ClinGen FH Variant Curation Expert Panel
| dc.contributor.author | Iacocca, M.A. | |
| dc.contributor.author | Chora, J.R. | |
| dc.contributor.author | Freiberger, T. | |
| dc.contributor.author | Carrie, A. | |
| dc.contributor.author | Sijbrands, E.J. | |
| dc.contributor.author | Wand, H. | |
| dc.contributor.author | Williams, M. | |
| dc.contributor.author | Kurtz, C.L. | |
| dc.contributor.author | Tichy, L. | |
| dc.contributor.author | Alves, A.C. | |
| dc.contributor.author | Zimmermann, H. | |
| dc.contributor.author | Meredith, A. | |
| dc.contributor.author | Wang, J. | |
| dc.contributor.author | Cuchel, M. | |
| dc.contributor.author | Hooper, A.J. | |
| dc.contributor.author | Humphries, S.E. | |
| dc.contributor.author | Defesche, J.C. | |
| dc.contributor.author | Santos, R.D. | |
| dc.contributor.author | Kullo, I.J. | |
| dc.contributor.author | Brunham, L.R. | |
| dc.contributor.author | Hegele, R.A. | |
| dc.contributor.author | Knowles, J.W. | |
| dc.contributor.author | Bourbon, M. | |
| dc.date.accessioned | 2021-04-23T14:08:56Z | |
| dc.date.available | 2021-04-23T14:08:56Z | |
| dc.date.issued | 2020-10 | |
| dc.description.abstract | Familial Hypercholesterolemia (FH): Lipid metabolism autosomal dominant condition; Patients present elevated low-density lipoprotein cholesterol (LDL-C) and total cholesterol (TC) values since childhood → increased risk of atherosclerotic cardiovascular disease; High heterozygote prevalence (1/250); Homozygous rare (1/1 000 000); Caused by pathogenic variants in LDLR (>90%), APOB (5-10%) and PCSK9 (1-3%) genes. | pt_PT |
| dc.description.version | N/A | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/7695 | |
| dc.language.iso | eng | pt_PT |
| dc.publisher | Instituto Nacional de Saúde Doutor Ricardo Jorge, IP | pt_PT |
| dc.subject | Familial Hypercholesterolemia | pt_PT |
| dc.subject | Guidelines | pt_PT |
| dc.subject | Doenças Cardio e Cérebro-vasculares | pt_PT |
| dc.title | Specification of ACMG/AMP guidelines for standardized variant interpretation in familial hypercholesterolemia: On behalf of the ClinGen FH Variant Curation Expert Panel | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | (online) | pt_PT |
| oaire.citation.title | 88th European Atherosclerosis Society, 4-7 October 2020 | pt_PT |
| rcaap.rights | embargoedAccess | pt_PT |
| rcaap.type | conferenceObject | pt_PT |
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