Correction to: Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population

Table 1 Genotypic expression of mutations in fibrinogen gene (FGA, FGB & FGG) IP # Gene Exon Mutation Amino Acid change Zygosity Mutation type Reported/Novel C1 FGA 1 c.24C > A p.Cys8* Homozygous Nonsense Ref #23 € C2 2 c.143_144 del AA p.Lys (AAA)48Arg fs9* Compound Heterozygous Frame shift Novel mutation C3 5 c.846delG p.Thr 283Arg fs138* Compound Heterozygous Frame shift Novel mutation 4 c.385C > T p.Arg129* Homozygous Nonsense Ref #24 € C4 4 c.385 C > T p.Arg129* Homozygous Nonsense Ref #24 € C5 5 c.598C > T p.Gln200* Homozygous Nonsense Ref 27* C6 5 c.904C > G p.Pro302Ala Homozygous Missense Novel mutation C7 5 c.913A > G p.Thr 305 Ala Homozygous Missense Novel mutation C8 5 c.992A > G p.Thr331Ala Homozygous Missense Novel mutation C9i 5 c.992A > G p.Thr331Ala Homozygous Missense Novel mutation C10 5 c.973A > G p.Ser325Gly Homozygous Missense Novel mutation C11A FGB 2 c.141 > T p.Arg47* Homozygous Nonsense Ref # 25 € C11B 2 c.141C > T p.Arg47* Homozygous Nonsense Ref # 25 € C9 ii 8 c.1294T > A p.Trp 432Arg Homozygous Missense Novel mutation C12 2 c.118_124dupTTCTTCA TTCTTCA Homozygous Frame shift Novel mutation C13A FGG 4 c.361A > T p.Lys121* Homozygous Nonsense Novel mutation C13B 4 c.361A > T Lys121* Homozygous Nonsense Novel mutation Identified novel and reported mutations in three genes of fibrinogen. The letter A and B with patient code designate the sibling status, i & ii shows mutation identified in same patient but in different genes, € (repor`ted mutation) c (complimentary deoxyribonucleic acid), A (adenine), T (thymine), C (cytosine), G (guanine), Lys (lysine), Arg (arginine), Tyr (tyrosine), Pro (proline), Trp (tryptophan), Thr (threonine), Gln (glycine), Cys = cystine, fs = frame shift, * stop codon number, FGA (fibrinogen Aα-chain gene), FGB (fibrinogen Bβ-chain gene), FGG (fibrinogen GƔ-chain gene. Table 2 Assessment of coagulation markers and bleeding scores with consanguinity/ethnicity IP# Fibrinogen Level (g/l) Thrombin Time (Sec) Prothrombin Time (Sec) Activated partial thromboplastin Time (aPTT) (Sec) Bleeding Score Consanguinity Interfamilial Relation Ethnic Origin *C1 0.01 23 > 120 > 180 20 positive Unrelated NA C2 0.02 24 > 120 > 180 21 positive Unrelated Punjabi C3 0 33 > 120 > 180 22 positive Unrelated Punjabi C4 0.1 24 > 120 > 180 17 positive Unrelated Urdu Speaking C5 0.02 31 > 120 > 180 20 positive Unrelated Sindhi C6 0.01 25 > 120 > 180 20 positive Unrelated Urdu speaking C7 0.02 29 > 120 > 180 22 positive Unrelated Sindhi