Journal article
Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study.
- Abstract:
-
BACKGROUND: Familial hypercholesterolaemia is a common autosomal-dominant disorder caused by mutations in three known genes. DNA-based cascade testing is recommended by UK guidelines to identify affected relatives; however, about 60% of patients are mutation-negative. We assessed the hypothesis that familial hypercholesterolaemia can also be caused by an accumulation of common small-effect LDL-C-raising alleles. METHODS: In November, 2011, we assembled a sample of patients with familial hyper...
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- Publication status:
- Published
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- Publisher copy:
- 10.1016/s0140-6736(12)62127-8
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Bibliographic Details
- Journal:
- Lancet
- Volume:
- 381
- Issue:
- 9874
- Pages:
- 1293-1301
- Publication date:
- 2013-04-01
- DOI:
- EISSN:
-
1474-547X
- ISSN:
-
0140-6736
- Source identifiers:
-
387085
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:387085
- UUID:
-
uuid:ca570173-2b90-49fa-b4d2-590004310ed9
- Local pid:
- pubs:387085
- Deposit date:
- 2013-11-16
Terms of use
- Copyright date:
- 2013
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