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http://hdl.handle.net/10400.18/6421| Title: | Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis |
| Author: | Chora, J.R. Medeiros, A.M. Alves, A.C. Bourbon, M. |
| Keywords: | Familial Hypercholesterolemia Genetic Diagnosis Doenças Cardio e Cérebro-vasculares Hipercolesterolemia Familia |
| Issue Date: | Feb-2019 |
| Publisher: | Instituto Nacional de Saúde Doutor Ricardo Jorge, IP |
| 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. |
| URI: | http://hdl.handle.net/10400.18/6421 |
| Appears in Collections: | DPSPDNT - Apresentações orais em reuniões nacionais |
Files in This Item:
| File | Description | Size | Format | |
|---|---|---|---|---|
| Analysis of publicly available LDLR, APOB.pdf | 1,44 MB | Adobe PDF | View/Open Request a copy |
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