FIELD: biotechnologies.
SUBSTANCE: method is proposed to predict risk of early development of ischemic heart disease in patients with familial hypercholesterolemia by any one mutation from the list of 5 mutations of the LDLR gene: 478T>G (C139G), 1252G>T (E397X), 1696A>T (1545F), 2389+5G>A or 2389+5G>C.
EFFECT: using the proposed method makes it possible to predict risk of early developent of ischemic heart disease in patients with clinical diagnosis of familial hypercholesterolemia, heterozygous form.
5 tbl
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Authors
Dates
2013-05-27—Published
2012-03-13—Filed