Further evidence of novel APOB mutations as a cause of Familial Hypercholesterolemia
Familial hypercholesterolaemia (FH) is an autosomal dominant disorder of cholesterol metabolism. Loss of function mutations in LDLR and APOB and also gain of function mutations in PCSK9 have been associated with FH, but mutations in LDLR are the most common cause of FH. Until 2012 only mutations in...
| Main Author: | |
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| Other Authors: | , , , |
| Format: | conferenceObject |
| Language: | eng |
| Published: |
2016
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| Subjects: | |
| Online Access: | http://hdl.handle.net/10400.18/3373 |
| Country: | Portugal |
| Oai: | oai:repositorio.insa.pt:10400.18/3373 |