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Founder effect is responsible for the p.Leu131Phe heparin-binding-site antithrombin mutation common in Hungary: phenotype analysis in a large cohort.
Gindele, R; Oláh, Z; Ilonczai, P; Speker, M; Udvari, Á; Selmeczi, A; Pfliegler, G; Marján, E; Kovács, B; Boda, Z; Muszbek, L; Bereczky, Z.
Afiliação
  • Gindele R; Division of Clinical Laboratory Science, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
  • Oláh Z; Thrombosis and Haemostasis Center, Department of Internal Medicine, Clinical Center, University of Debrecen, Debrecen, Hungary.
  • Ilonczai P; Thrombosis and Haemostasis Center, Department of Internal Medicine, Clinical Center, University of Debrecen, Debrecen, Hungary.
  • Speker M; Division of Clinical Laboratory Science, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
  • Udvari Á; Division of Clinical Laboratory Science, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
  • Selmeczi A; Thrombosis and Haemostasis Center, Department of Internal Medicine, Clinical Center, University of Debrecen, Debrecen, Hungary.
  • Pfliegler G; Division of Rare Diseases, Department of Internal Medicine, Clinical Center, University of Debrecen, Debrecen, Hungary.
  • Marján E; Department of Pediatrics, A. Jósa Teaching Hospital, Nyíregyháza, Hungary.
  • Kovács B; Division of Clinical Laboratory Science, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
  • Boda Z; Thrombosis and Haemostasis Center, Department of Internal Medicine, Clinical Center, University of Debrecen, Debrecen, Hungary.
  • Muszbek L; Division of Clinical Laboratory Science, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
  • Bereczky Z; Haemostasis, Thrombosis and Vascular Biology Research Group of the Hungarian Academy of Sciences, University of Debrecen, Debrecen, Hungary.
J Thromb Haemost ; 14(4): 704-15, 2016 Apr.
Article em En | MEDLINE | ID: mdl-26748602
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenilalanina / Heparina / Antitrombinas / Efeito Fundador / Leucina / Mutação Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenilalanina / Heparina / Antitrombinas / Efeito Fundador / Leucina / Mutação Idioma: En Ano de publicação: 2016 Tipo de documento: Article