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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Bibliographic Details
Main Author: Graça, Rafael (author)
Format: lecture
Language:eng
Published: 2019
Subjects:
Online Access:http://hdl.handle.net/10400.18/5870
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/5870