Extended next-generation sequencing panel for Familial Hypercholesterolemia
Familial Hypercholesterolemia (FH) is a common autosomal genetic disorder (1/250-1/500 worldwide). Clinically these patients present with high levels of cholesterol since birth, family history of hypercholesterolemia and premature cardiovascular disease. Formal genetic diagnosis includes the study o...
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| Other Authors: | , |
| Format: | conferenceObject |
| Language: | eng |
| Published: |
2021
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| Subjects: | |
| Online Access: | http://hdl.handle.net/10400.18/7810 |
| Country: | Portugal |
| Oai: | oai:repositorio.insa.pt:10400.18/7810 |
| Summary: | Familial Hypercholesterolemia (FH) is a common autosomal genetic disorder (1/250-1/500 worldwide). Clinically these patients present with high levels of cholesterol since birth, family history of hypercholesterolemia and premature cardiovascular disease. Formal genetic diagnosis includes the study of 3 genes: LDLR, APOB, PCSK9. Recently, other 5 genes have been associated with the FH phenotype (LDLRAP1, APOE, LIPA, ABCG5/8) since pathogenic variants have been identified in clinical FH patients. |
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