Next-generation sequencing of LDLR and APOB genes in patients with a clinical diagnosis of Familial Hypercholesterolaemia
Familial hypercholesterolemia (FH) is a genetic condition characterized by a high cholesterol concentration in the blood. The most frequent causes of FH are inherited defects in the Low Density Lipoprotein Receptor gene (LDLR) but, in a small percentage of patients, mutations in the apolipoprotein B...
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| Formato: | conferenceObject |
| Idioma: | eng |
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2012
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| Texto completo: | http://hdl.handle.net/10400.18/398 |
| País: | Portugal |
| Oai: | oai:repositorio.insa.pt:10400.18/398 |