Genetic status of the Portuguese FH Study: Variant description and Next Generation Sequencing panel
Introduction: Familial Hypercholesterolemia (FH) is a common autosomal genetic disorder (1/250-1/500 worldwide); FH patients have high levels of cholesterol since birth with a family history of hypercholesterolemia and premature cardiovascular disease; Genetic diagnosis results from the study of 3 g...
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Other Authors: | , |
Format: | conferenceObject |
Language: | eng |
Published: |
2021
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Subjects: | |
Online Access: | http://hdl.handle.net/10400.18/7717 |
Country: | Portugal |
Oai: | oai:repositorio.insa.pt:10400.18/7717 |