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. 2014 Oct 2;9(10):e108683. doi: 10.1371/journal.pone.0108683

Table 7. Mutations in Indian patients with Factor XI deficiency.

Sr. no. Patient nos. Exon Nucleotide change Mutations Comments Polymorphisms Reference
1 1 8 c.G865C §Val271Leu Heterozygous Int A, g.A-138C int A Het [17]
2 12 c.G1433C Gly460Arg Heterozygous p.Gly379Gly Het
2* 12 Gly460Arg Homozygous Int A, g.A-138C int A Homo
p.Gly379Gly Homo
3 3 10 c.A1106C §Tyr351Ser Homozygous
§

Novel variations.

* Patient 3 also showed a mutation p.Phe349Val in F9 gene.