Journals / Turkish Journal of Hematology / 2021 / Cilt: 38 - Sayı: 2

Novel Mutation p.Asp374Val of SERPINC1 in a Turkish Family with Inherited Antithrombin Deficiency

Pages
161–163
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
🔖

Cite This Article

ASLAN, D. (2021). Novel Mutation p.Asp374Val of SERPINC1 in a Turkish Family with Inherited Antithrombin Deficiency. Turkish Journal of Hematology, Cilt: 38 - Sayı: 2, 161–163. https://ajindex.com/articles/411669

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (12)

  1. . Sarangi SN, Acharya SA. Disorders of Coagulation. In: Lanzkowsky P, Lipton JM, Fish JD (eds). Lanzkowsky’s Manual of Pediatric Hematology and Oncology. New York, Academic Press, 2016. 2. Olds RJ, Lane DA, Chowdhury V, De Stefano V, Leone G, Thein SL. Complete nucleotide sequence of the antithrombin gene: evidence for homologous recombination causing thrombophilia. Biochemistry 1993
  2. Zhang H, Liu S, Luo S, Jin Y, Yang L, Xie H, Pan J, Wang M. Two novel mutations cause hereditary antithrombin deficiency in a Chinese family. Acta Haematol 2020
  3. Patnaik MM, Moll S. Inherited antithrombin deficiency: a review. Haemophilia 2008
  4. Picard V, Dautzenberg MD, Villoutreix BO, Orliaguet G, Alhenc-Gelas M, Aiach M. Antithrombin Phe229Leu: a new homozygous variant leading to spontaneous antithrombin polymerization in vivo associated with severe childhood thrombosis. Blood 2003
  5. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL
  6. ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation o sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015
  7. Carrell RW, Lomas DA. Alpha1-antitrypsin deficiency--a model for conformational diseases. N Engl J Med 2002
  8. Sarper N, Orlando C, Demirsoy U, Gelen SA, Jochmans K. Homozygous antithrombin deficiency in adolescents presenting with lower extremity thrombosis and renal complications: two case reports from Turkey. J Pediatr Hematol Oncol 2014
  9. de la Morena-Barrio B, Orlando C, de la Morena-Barrio ME, Vicente V, Jochmans K, Corral J. Incidence and features of thrombosis in children with inherited antithrombin deficiency. Haematologica 2019
  10. Di Minno MN, Ambrosino P, Ageno W, Rosendaal F, Di Minno G, Dentali F. Natural anticoagulants deficiency and the risk of venous thromboembolism: a meta-analysis of observational studies. Thromb Res 2015
  11. Castaldo G, Cerbone AM, Guida A, Tandurella I, Ingino R, Tufano A, Ceglia C, Di Minno MN, Ruocco AL, Di Minno G. Molecular analysis and genotype- phenotype correlation in patients with antithrombin deficiency from Southern Italy. Thromb Haemost 2012
  12. Bradley JF, Collins DL, Schimke RN, Parrott HN, Rothberg PG. Two distinct phenotypes