Article
Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia.
Clinical genetics - 1 Jun 2007
Taylor A, Tabrah S, Wang D, Sozen M, Duxbury N, Whittall R, Humphries S E, Norbury G
Abstract excerpt
DNA analysis and mutation identification is useful for the diagnosis of familial hypercholesterolaemia (FH), particularly in the young and in other situations where clinical diagnosis may be difficult, and enables unambiguous identification of at-risk relatives. Mutation screening of the whole of the three FH-causing genes is costly and time consuming. We have tested the specificity and sensitivity of a recently...
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