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.