Functional genomics in familial dyslipidaemia
Familial Hypercholesterolemia (FH) is a genetic autosomal dominant disorder characterized clinically by high LDL plasma concentrations from birth causing premature atherosclerosis and coronary heart disease (CHD). The genetic diagnosis is made by finding a functional mutation in one of 3 genes: LDLR...
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| Formato: | lecture |
| Idioma: | eng |
| Publicado em: |
2019
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| Texto completo: | http://hdl.handle.net/10400.18/5870 |
| País: | Portugal |
| Oai: | oai:repositorio.insa.pt:10400.18/5870 |