Article
Mutation detection in Croatian patients with familial hypercholesterolemia.
Annals of human genetics - 1 Jan 2013
Pećin Ivan, Whittall Ros, Futema Marta, Sertić Jadranka, Reiner Zeljko, Leigh Sarah E A, Humphries Steve E
Abstract excerpt
Familial hypercholesterolemia (FH) is caused by mutations in the genes for LDLR, APOB or PCSK9, and identification of the causative mutation provides definitive diagnosis so that the patient can be treated, their relatives tested and, therefore, premature heart disease prevented. DNA of eight unrelated individuals with clinically diagnosed FH were analyzed using a High-Resolution Melting method (HRM) for the LDLR...
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