Archeogenetics of F11 p.Cys38Arg: a 5400-year-old mutation identified in different southwestern European countries-Reference-Cited by-同舟云学术

Archeogenetics of F11 p.Cys38Arg: a 5400-year-old mutation identified in different southwestern European countries

Published:2019-06-13 Issue:24 Volume:133 Page:2618-2622
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

de la Morena-Barrio María Eugenia¹^ORCID,Salloum-Asfar Salam¹²^ORCID,Esteban Julio³,de la Morena-Barrio Belén¹^ORCID,Altisent Carmen⁴,Martin-Fernández Laura⁵⁶⁷,Gueguen Paul⁸,Padilla Jose¹^ORCID,Miñano Antonia¹,Parra Rafael⁴,Vicente Vicente¹^ORCID,Vidal Francisco⁵⁹¹⁰^ORCID,Bauduer Frederic¹¹,Carbonell Pablo¹²,Corral Javier¹^ORCID

Affiliation:

1. Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, Instituto Murciano de Investigación Biosanitaria (IMIB-Arrixaca), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Murcia, Spain;

2. Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Education City, Qatar Foundation, Doha, Qatar;

3. Servicio de Hematología Hospital, Virgen del Castillo de Yecla, Murcia, Spain;

4. Unidad de Hemofilia, Hospital Universitario Vall d’Hebron, Barcelona, Spain;

5. Coagulopaties Congènites, Banc de Sang i Teixits, Barcelona, Spain;

6. Unitat de Genòmica de Malalties Complexes, Institut d’Investigació Biomèdica Sant Pau, Barcelona, Spain;

7. Fundación Española de Trombosis y Hemostasia, Madrid, Spain;

8. Laboratoire de Génétique Moléculaire, INSERM U1078, CHRU de Brest, Brest, France;

9. Unitat de Diagnòstic i Teràpia Molecular, Vall d'Hebron Institut de Recerca, Universitat Autònoma de Barcelona, Barcelona, Spain;

10. CIBER de Enfermedades Cardiovasculares, Barcelona, Spain;

11. UMR 5199 PACEA, Université de Bordeaux, Pessac, France; and

12. Centro de Bioquímica y Genética Clínica, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/133/24/2618/1724490/bloodbld2019000055.pdf

Reference25 articles.

1. Factor XI and contact activation as targets for antithrombotic therapy;Gailani;J Thromb Haemost,2015

2. Factor XI deficiency is associated with lower risk for cardiovascular and venous thromboembolism events;Preis;Blood,2017

3. Factor XI deficiency in Ashkenazi Jews in Israel;Asakai;N Engl J Med,1991

4. Exploring the global landscape of genetic variation in coagulation factor XI deficiency;Asselta;Blood,2017

5. High incidence of FXI deficiency in a Spanish town caused by 11 different mutations and the first duplication of F11: Results from the Yecla study;Esteban;Haemophilia,2017

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