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. 2018 May 2;17:100. doi: 10.1186/s12944-018-0763-z

Table 2.

Characteristic of the LDLR mutations found in the present study

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