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

Table 1. Mutations in Indian patients with fibrinogen deficiency.

Sr. no. Patient nos. Gene/Location Nucleotide change Amino acid change Comments References
1 1 FGB, Exon 7 c.1241delG §p.Gly414fs*2 Homozygous [4]
2 2,12,24,25,26,27 FGA §$c.G364+1A - Homozygous
3 3,4,5,6,8,13,19,22 FGG, Exon 6 $c.554delA $p.Lys185fs*13 Homozygous
4 7 FGB, Exon 6 c.G862A §p.Gly288Ser Homozygous
5 9 FGA, Exon 4 c.C381A § p.Tyr127* Homozygous
6 10 FGA, Exon 5 c.1725delA §p.Lys575fs*74 Homozygous
7 11,23 FGB, Exon 8 c.G1334C §p.Arg445Thr Homozygous
8 14 FGA, Exon 5 c.1398delT §p.Thr466fs*17 Homozygous
9 15 FGG, Exon 6 c.243delA §p.Ser81fs*5 Homozygous
10 16 FGG, Exon 7 c.834_835delCT §p.Asp278–279fs*17 Homozygous
11 17 FGB §c.G851+1A - Homozygous
12 18 FGA, Exon 5 c.786_789delGAGA p.Glu262–263fs*158 Homozygous
13 20 FGA, Exon 5 c.887_894dup7 §p.Asp296fs*59 Homozygous
14 21 FGA §c.T510+2G - Homozygous
15 28 FGB, Exon 8 c.G8017A §,p.Gly434Asp Homozygous [5]
§

Novel variations, $ Common variations.