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Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic

Abstract:

Aim: To determine the frequency and spectrum of mutations causing Familial Hypercholesterolaemia (FH) in patients attending a single UK specialist hospital lipid clinic in Oxford and to identify characteristics contributing to a high mutation detection rate. Methods: 289 patients (272 probands) were screened sequentially over a 2-year period for mutations in LDLR, APOB and PCSK9 using standard molecular genetic techniques. The Simon Broome (SB) clinical diagnostic criteria were used to classi...

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Authors


Whittall, RA More by this author
Cooper, JA More by this author
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Journal:
Atherosclerosis
Volume:
229
Issue:
1
Pages:
161-168
Publication date:
2013-07-05
DOI:
EISSN:
1879-1484
ISSN:
0021-9150
URN:
uuid:97517933-a814-40f7-bd0f-b55626913ed7
Source identifiers:
411830
Local pid:
pubs:411830

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