Systematic review of LDLR mutations associated to Familial hypercholesterolaemia evidence of functional studies and application of ACMG guidelines for FH diagnosis
Familial hypercholesterolaemia (FH) is an autosomal dominant disorder caused by functional mutations in LDLR (>90%), APOB (5-10%) and PCSK9 (1-3%). An accurate genetic diagnosis is essential for a correct diagnosis. However it is known that only a small part of the variants identified have been c...
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| Outros Autores: | , , |
| Formato: | conferenceObject |
| Idioma: | eng |
| Publicado em: |
2017
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| Assuntos: | |
| Texto completo: | http://hdl.handle.net/10400.18/4811 |
| País: | Portugal |
| Oai: | oai:repositorio.insa.pt:10400.18/4811 |