3Ekstrom U, Abrahamson M, Floren CH, et al. An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation(C240F). Clin C, enet, 1999, 55:332-339.
4Humphries SE, C, udnason V, Whittall R, et al. Single-strand conformation polymorphism analysis with high throughput modifications, and it is use in mutation detection in familial hypercholesterolemia. Clin Chem, 1997, 43:427-435.