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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 hyperch...

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Journal:
The Lancet
Volume:
381
Issue:
9874
Pages:
1293-1301
Publication date:
2013-04-01
DOI:
EISSN:
1474-547X
ISSN:
0140-6736
URN:
uuid:1b2b8e60-cd01-4094-ae0e-53d2c7cbb6e1
Source identifiers:
404407
Local pid:
pubs:404407

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