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http://hdl.handle.net/10400.18/5882| Title: | Familial hypercholesterolemiaassociated variants in ClinVar |
| Author: | Chora, Joana R. Iacocca, Michael A. Carrié, Alain Freiberger, Tomáš Leigh, Sarah E. Defesche, Joep C. Kurtz, C. Lisa DiStefano, Marina T. Santos, Raul D. Humphries, Steve E. Mata, Pedro Jannes, Cinthia E. Hooper, Amanda J. Wilemon, Katherine A. Benlian, Pascale O'Connor, Robert Garcia, John Wand, Hannah Tichý, Lukáš Sijbrands, Eric J. Hegele, Robert A. Bourbon, Mafalda Knowles, Joshua W. On behalf of the ClinGen FH Variant Curation Expert Panel |
| Keywords: | Familial Hypercholesterolemia Doenças Cardio e Cérebro-vasculares |
| Issue Date: | Oct-2018 |
| 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. |
| URI: | http://hdl.handle.net/10400.18/5882 |
| Appears in Collections: | DPSPDNT - Apresentações orais em reuniões nacionais |
Files in This Item:
| File | Description | Size | Format | |
|---|---|---|---|---|
| CPA_2018_ClinVar.pdf | 1,43 MB | Adobe PDF | View/Open Request a copy |
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