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Table 3 The geographic distribution of the most common LDLR mutations of FH in China

From: Genetic basis of index patients with familial hypercholesterolemia in Chinese population: mutation spectrum and genotype-phenotype correlation

DNA change Mutation Number Geographic distribution (number)
Northeast China North China Northwest China Eastern China Southern China Southwest China
c.1448G > A p.W483X 9 0 3 0 2 3 1
c.1879G > A p.A627T 7 2 2 0 2 1 0
c.769C > T p.R257W 5 1 3 1 0 0 0
c.1765G > A p.D589N 5 1 3 1 0 0 0
c.1187-10G > A 4 1 0 0 3 0 0
c.1747C > T p.H583Y 4 2 1 0 0 1 0
c.1864G > T p.D622Y 4 0 3 1 0 0 0
  1. LDLR low-density lipoprotein receptor, FH familial hypercholesterolemia