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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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Journal:
Lancet
Volume:
381
Issue:
9874
Pages:
1293-1301
Publication date:
2013-04-01
DOI:
EISSN:
1474-547X
ISSN:
0140-6736
Source identifiers:
387085
Language:
English
Keywords:
Pubs id:
pubs:387085
UUID:
uuid:ca570173-2b90-49fa-b4d2-590004310ed9
Local pid:
pubs:387085
Deposit date:
2013-11-16

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