Functionally characterization of the most common LDLR missense alterations found in Portuguese FH patients
Aims: Mutations in the LDLR gene are the major cause of familial hypercholesterolaemia (FH), which results in defective catabolism of LDL leading to premature coronary heart disease. Presently, more than 1700 different mutations in the LDLR gene have been described as causing FH but the majority of...
| Autor principal: | |
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| Outros Autores: | , , , , , , |
| Formato: | conferenceObject |
| Idioma: | eng |
| Publicado em: |
2018
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| Assuntos: | |
| Texto completo: | http://hdl.handle.net/10400.18/3848 |
| País: | Portugal |
| Oai: | oai:repositorio.insa.pt:10400.18/3848 |