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Table 2 Characteristic of the LDLR mutations found in the present study

From: Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia – a preliminary report

Location

Nucleotide change

Protein change

Allele name

References

Exon 4

c.682G > C

p.Glu228Gln

FH Tulsa 2/ FH Iraq

4,15,23–26

Exon 11

c.1670C > G

p.Thr557Ser

Novel variant

Exon 12

c.1720C > A

p.Arg574Ser

31

Exon 13

c.1855 T > A

p.Phe619Leu

30

Exon 15

c.2289G > T

p.Glu763Asp

32