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Compound heterozygosity involving Antithrombin Cambridge II (p.Ala416Ser) in antithrombin deficiency.

作者信息

Águila Sonia, Martínez-Martínez Irene, Collado Miriam, Llamas Pilar, Antón Ana I, Martínez-Redondo Consuelo, Padilla José, Miñano Antonia, de la Morena-Barrio María E, Garcia-Avello Ángel, Vicente Vicente, Corral Javier

出版信息

Thromb Haemost. 2013 Mar;109(3):556-8. doi: 10.1160/TH12-09-0707. Epub 2013 Jan 17.

DOI:10.1160/TH12-09-0707
PMID:23329010
Abstract
摘要

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Identification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency.鉴定SERPINC1中影响与抗凝血酶缺乏相关的维生素D反应元件的调控突变。
PLoS One. 2016 Mar 22;11(3):e0152159. doi: 10.1371/journal.pone.0152159. eCollection 2016.