Yıl: 2021 Cilt: 38 Sayı: 2 Sayfa Aralığı: 161 - 163 Metin Dili: İngilizce DOI: 10.4274/tjh.galenos.2021.2020.0702 İndeks Tarihi: 21-06-2022

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

Öz:
-
Anahtar Kelime:

Kalıtsal Antitrombin Eksikliği Olan Bir Türk Ailede SERPINC1 Geninde Yeni Bir Mutasyon (p.asp374val)

Öz:
-
Anahtar Kelime:

Belge Türü: Makale Makale Türü: Editöre Mektup Erişim Türü: Erişime Açık
  • . 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;32:4216-4224.
  • 3. 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;143:260-265.
  • 4. Patnaik MM, Moll S. Inherited antithrombin deficiency: a review. Haemophilia 2008;14:1229-1239.
  • 5. 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;102:919-925.
  • 6. 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; 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;17:405-424.
  • 7. Carrell RW, Lomas DA. Alpha1-antitrypsin deficiency--a model for conformational diseases. N Engl J Med 2002;346:45-53.
  • 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;36:190-192.
  • 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;104:2512-2518.
  • 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;135:923-932.
  • 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;107:673-680.
  • 12. Bradley JF, Collins DL, Schimke RN, Parrott HN, Rothberg PG. Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene. Am J Med Genet 1999;87:163-167
APA Aslan d (2021). Novel Mutation p.Asp374Val of SERPINC1 in a Turkish Family with Inherited Antithrombin Deficiency. , 161 - 163. 10.4274/tjh.galenos.2021.2020.0702
Chicago Aslan deniz Novel Mutation p.Asp374Val of SERPINC1 in a Turkish Family with Inherited Antithrombin Deficiency. (2021): 161 - 163. 10.4274/tjh.galenos.2021.2020.0702
MLA Aslan deniz Novel Mutation p.Asp374Val of SERPINC1 in a Turkish Family with Inherited Antithrombin Deficiency. , 2021, ss.161 - 163. 10.4274/tjh.galenos.2021.2020.0702
AMA Aslan d Novel Mutation p.Asp374Val of SERPINC1 in a Turkish Family with Inherited Antithrombin Deficiency. . 2021; 161 - 163. 10.4274/tjh.galenos.2021.2020.0702
Vancouver Aslan d Novel Mutation p.Asp374Val of SERPINC1 in a Turkish Family with Inherited Antithrombin Deficiency. . 2021; 161 - 163. 10.4274/tjh.galenos.2021.2020.0702
IEEE Aslan d "Novel Mutation p.Asp374Val of SERPINC1 in a Turkish Family with Inherited Antithrombin Deficiency." , ss.161 - 163, 2021. 10.4274/tjh.galenos.2021.2020.0702
ISNAD Aslan, deniz. "Novel Mutation p.Asp374Val of SERPINC1 in a Turkish Family with Inherited Antithrombin Deficiency". (2021), 161-163. https://doi.org/10.4274/tjh.galenos.2021.2020.0702
APA Aslan d (2021). Novel Mutation p.Asp374Val of SERPINC1 in a Turkish Family with Inherited Antithrombin Deficiency. Turkish Journal of Hematology, 38(2), 161 - 163. 10.4274/tjh.galenos.2021.2020.0702
Chicago Aslan deniz Novel Mutation p.Asp374Val of SERPINC1 in a Turkish Family with Inherited Antithrombin Deficiency. Turkish Journal of Hematology 38, no.2 (2021): 161 - 163. 10.4274/tjh.galenos.2021.2020.0702
MLA Aslan deniz Novel Mutation p.Asp374Val of SERPINC1 in a Turkish Family with Inherited Antithrombin Deficiency. Turkish Journal of Hematology, vol.38, no.2, 2021, ss.161 - 163. 10.4274/tjh.galenos.2021.2020.0702
AMA Aslan d Novel Mutation p.Asp374Val of SERPINC1 in a Turkish Family with Inherited Antithrombin Deficiency. Turkish Journal of Hematology. 2021; 38(2): 161 - 163. 10.4274/tjh.galenos.2021.2020.0702
Vancouver Aslan d Novel Mutation p.Asp374Val of SERPINC1 in a Turkish Family with Inherited Antithrombin Deficiency. Turkish Journal of Hematology. 2021; 38(2): 161 - 163. 10.4274/tjh.galenos.2021.2020.0702
IEEE Aslan d "Novel Mutation p.Asp374Val of SERPINC1 in a Turkish Family with Inherited Antithrombin Deficiency." Turkish Journal of Hematology, 38, ss.161 - 163, 2021. 10.4274/tjh.galenos.2021.2020.0702
ISNAD Aslan, deniz. "Novel Mutation p.Asp374Val of SERPINC1 in a Turkish Family with Inherited Antithrombin Deficiency". Turkish Journal of Hematology 38/2 (2021), 161-163. https://doi.org/10.4274/tjh.galenos.2021.2020.0702