Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort
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 sing...
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Veröffentlicht in: | Human mutation 2002-03, Vol.19 (3), p.311-311 |
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