Publication
Familial hypercholesterolemiaassociated variants in ClinVar
| dc.contributor.author | Chora, Joana R. | |
| dc.contributor.author | Iacocca, Michael A. | |
| dc.contributor.author | Carrié, Alain | |
| dc.contributor.author | Freiberger, Tomáš | |
| dc.contributor.author | Leigh, Sarah E. | |
| dc.contributor.author | Defesche, Joep C. | |
| dc.contributor.author | Kurtz, C. Lisa | |
| dc.contributor.author | DiStefano, Marina T. | |
| dc.contributor.author | Santos, Raul D. | |
| dc.contributor.author | Humphries, Steve E. | |
| dc.contributor.author | Mata, Pedro | |
| dc.contributor.author | Jannes, Cinthia E. | |
| dc.contributor.author | Hooper, Amanda J. | |
| dc.contributor.author | Wilemon, Katherine A. | |
| dc.contributor.author | Benlian, Pascale | |
| dc.contributor.author | O'Connor, Robert | |
| dc.contributor.author | Garcia, John | |
| dc.contributor.author | Wand, Hannah | |
| dc.contributor.author | Tichý, Lukáš | |
| dc.contributor.author | Sijbrands, Eric J. | |
| dc.contributor.author | Hegele, Robert A. | |
| dc.contributor.author | Bourbon, Mafalda | |
| dc.contributor.author | Knowles, Joshua W. | |
| dc.contributor.author | On behalf of the ClinGen FH Variant Curation Expert Panel | |
| dc.date.accessioned | 2019-02-18T17:57:57Z | |
| dc.date.available | 2019-02-18T17:57:57Z | |
| dc.date.issued | 2018-10 | |
| 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 birth - elevated cardiovascular risk if untreated; High heterozygote prevalence (1/250-500); Homozygous rare (1/300 000-1 000 000); 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/10400.18/5882 | |
| dc.language.iso | eng | pt_PT |
| dc.subject | Familial Hypercholesterolemia | pt_PT |
| dc.subject | Doenças Cardio e Cérebro-vasculares | pt_PT |
| dc.title | Familial hypercholesterolemiaassociated variants in ClinVar | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Porto, Portugal | pt_PT |
| oaire.citation.title | XXVI Congresso Português de Aterosclerose, 26-27 outubro 2018 | pt_PT |
| rcaap.rights | closedAccess | pt_PT |
| rcaap.type | conferenceObject | pt_PT |