一个患有遗传性抗凝血酶缺乏症的土耳其家庭中凝血酶原的新型突变p.Asp374Val - Suppr

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

作者信息

Aslan Deniz

机构信息

Gazi University Faculty of Medicine, Department of Pediatrics, Division of Hematology, Ankara, Turkey

出版信息

Turk J Haematol. 2021 Jun 1;38(2):161-163. doi: 10.4274/tjh.galenos.2021.2020.0702. Epub 2021 Jan 6.

DOI:10.4274/tjh.galenos.2021.2020.0702

PMID:33401890

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8171213/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c719/8171213/5186f9ed1c78/TJH-38-161-g1.jpg

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Incidence and features of thrombosis in children with inherited antithrombin deficiency.

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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

Homozygous antithrombin deficiency in adolescents presenting with lower extremity thrombosis and renal complications: two case reports from Turkey.

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

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