Genetic Spectrum in F13A1 Detected by Next-Generation Sequencing Among North Indian Patients with FXIII Deficiency

Alshehri FSM, Whyte CS, Mutch NJ (2021) Factor XIII-A: An Indispensable “Factor” in Haemostasis and Wound Healing. Int J Mol Sci 22:3055

Article  PubMed  PubMed Central  Google Scholar 

Karimi M, Bereczky Z, Cohan N, Muszbek L (2009) Factor XIII Deficiency. Semin Thromb Hemost 35:426–438

Article  PubMed  Google Scholar 

Kohler HP, Ichinose A, Seitz R et al (2011) Diagnosis and classification of factor XIII deficiencies. J Thromb Haemost 9:1404–1406

Article  PubMed  Google Scholar 

Muszbek L, Katona É (2016) Diagnosis and Management of Congenital and Acquired FXIII Deficiencies. Semin Thromb Hemost 42:429–439

Article  PubMed  Google Scholar 

Anwar R, Stewart AD, Miloszewski KJA et al (1995) Molecular basis of inherited factor XIII deficiency: identification of multiple mutations provides insights into protein function. Br J Haematol 91:728–735

Article  PubMed  Google Scholar 

Birben E, Öner R, Öner C et al (2002) Mutations in coagulation factor XIII A gene in three Turkish patients: two novel mutations and a known insertion. Br J Haematol 118:278–281

Article  PubMed  Google Scholar 

Vysokovsky A, Saxena R, Landau M et al (2004) Seven novel mutations in the factor XIII A-subunit gene causing hereditary factor XIII deficiency in 10 unrelated families. J Thromb Haemost 2:1790–1797

Article  PubMed  Google Scholar 

Shanbhag S, Shetty S, Ghosh K (2011) Mutations in coagulation factor XIII subunit A in severe factor XIII deficiency patients: five novel mutations detected. Haemophilia 17:e843–845

PubMed  Google Scholar 

Borhany M, Handrkova H, Cairo A et al (2014) Congenital factor XIII deficiency in Pakistan: characterization of seven families and identification of four novel mutations. Haemophilia 20:568–574

Article  PubMed  Google Scholar 

Mirakhorli M, Behboudi Farahbakhsh F, Reza Baghaipour M et al (2019) Factor XIII mutation spectrum in Iranian patients with hereditary factor XIII deficiency: Detection of 3 novel mutations. Int J Lab Hematol 41:e61–e65

Article  PubMed  Google Scholar 

Shanbhag S, Ghosh K, Shetty S (2016) Genetic basis of severe factor XIII deficiency in a large cohort of Indian patients: Identification of fourteen novel mutations. Blood Cells Mol Dis 57:81–84

Article  PubMed  Google Scholar 

World Federation of Hemophilia (2020) Report on the Annual Global Survey 2020. WFH, Montreal

Google Scholar 

Duckert F, Jung E, Shmerling DH (1960) A Hitherto Undescribed Congenital Haemorrhagic Diathesis Probably Due to Fibrin Stabilizing Factor Deficiency. Thromb Diath Haemorrh 05:179–186

Google Scholar 

Seitz R, Duckert F, Lopaciuk S et al (1996) ETRO Working Party on Factor XIII questionnaire on congenital factor XIII deficiency in Europe: status and perspectives. Study Group. Semin Thromb Hemost 22:415–418

Article  PubMed  Google Scholar 

Ivaskevicius V, Seitz R, Kohler HP et al (2007) International registry on factor XIII deficiency: a basis formed mostly on European data. Thromb Haemost 97:914–921

Article  PubMed  Google Scholar 

Ivaskevicius V, Biswas A, Garly ML, Oldenburg J (2017) Comparison of F13A1 gene mutations in 73 patients treated with recombinant FXIII-A2. Haemophilia 23:e194–e203

Article  PubMed  Google Scholar 

Jayandharan G, Viswabandya A, Baidya S et al (2006) Mutations in coagulation factor XIII A gene in eight unrelated Indians. Thromb Haemost 95:551–556

Article  PubMed  Google Scholar 

Shanbhag S, Ghosh K, Shetty S (2016) First trimester prenatal diagnosis of severe FXIII deficiency. Haemophilia 22:e443–e444

Article  PubMed  Google Scholar 

Dorgalaleh A, Assadollahi V, Tabibian S, Shamsizadeh M (2018) Molecular Basis of Congenital Factor XIII Deficiency in Iran. Clin Appl Thromb Hemost 24:210–216

Article  PubMed  Google Scholar 

Venselaar H, Te Beek TAH, Kuipers RKP et al (2010) Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces. BMC Bioinformatics 11:548

Article  PubMed  PubMed Central  Google Scholar 

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