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Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort.

Abstract:

Familial hypercholesterolaemia (FH) is a common inherited disorder, associated with premature vascular disease. FH may be caused by many different mutations in the low density lipoprotein receptor (LDLR) gene, about 700 mutations have been described, most of which occur rarely and often only in single families. Although particular mutations are prevalent in certain ethnic groups, countries with heterogeneous population bases (such as NZ) may carry a wide variety of mutations; making a gene sc...

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Publisher copy:
10.1002/humu.9021

Authors


Lintott, CJ More by this author
George, PM More by this author
Journal:
Human mutation
Volume:
19
Issue:
3
Pages:
311
Publication date:
2002-03-05
DOI:
EISSN:
1098-1004
ISSN:
1059-7794
URN:
uuid:d47ac40c-5f60-4c3d-b4b0-86cef4bc8d36
Source identifiers:
159578
Local pid:
pubs:159578

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