Article
Increasing the sensitivity of single-strand conformation polymorphism analysis of the LDLR gene mutations in brazilian patients with familial hypercholesterolemia.
Clinical chemistry and laboratory medicine - 1 May 2002
Salazar Luis A, Hirata Mario H, Hirata Rosario D C
Abstract excerpt
Mutations in the low-density lipoprotein receptor (LDLR) gene cause familial hypercholesterolemia (FH), one of the most common single gene disorders. It is thought that FH affects approximately 1 of 500 individuals in most populations. Single-strand conformation polymorphism (SSCP) analysis is widely used to detect mutations in the LDLR gene. However, several factors such as temperature, pH, running time, gel...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.