Journal article
Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.
- Abstract:
-
BACKGROUND: Familial hypercholesterolaemia (FH) is an autosomal dominant disease of lipid metabolism, which leads to early coronary heart disease. Mutations in LDLR, APOB and PCSK9 can be detected in 80% of definite FH (DFH) patients. This study aimed to identify novel FH-causing genetic variants in patients with no detectable mutation. METHODS AND RESULTS: Exomes of 125 unrelated DFH patients were sequenced, as part of the UK10K project. First, analysis of known FH genes identified 23 LDLR a...
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- Publication status:
- Published
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Bibliographic Details
- Publisher:
- BMJ Publishing Group
- Journal:
- Journal of medical genetics
- Volume:
- 51
- Issue:
- 8
- Pages:
- 537-544
- Publication date:
- 2014-08-01
- DOI:
- EISSN:
-
1468-6244
- ISSN:
-
0022-2593
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:475828
- UUID:
-
uuid:3b28202a-1c5d-49fd-b297-55bfb4e67ad1
- Local pid:
- pubs:475828
- Source identifiers:
-
475828
- Deposit date:
- 2014-10-08
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- Copyright date:
- 2014
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