2.PCSK9 has many sequence variations. Several missense mutations(e.g.S127R and F216L)in PCSK9 are associated with an autosomaldominantformof hypercholesterolemia(ADH).
10.BackgroundHereditary spastic paraplegia (HSP or SPG) is a kind of hereditary disorder of nervous system. Autosomaldominant (AD), autosomal recessive (AR), X-linked inheritance have been described for HSP.