Furthermore,nonsense mutations(e.g.Y142X and C679X)or new missense variants(e.g.R46L)have recently been found to be associated with a reduction in LDL cholesterol and to reduce the incidence of coronary heart disease(CHD).

• 无义突变Y142X、C679X及错义变异R46L均可降低LDL胆固醇和冠心病发病率。