Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of theITGA2BandITGB3Genes in a Large International Cohort-Reference-Cited by-同舟云学术

Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of theITGA2BandITGB3Genes in a Large International Cohort

Published:2015-04-22 Issue:5 Volume:36 Page:548-561
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Nurden Alan T.¹,Pillois Xavier¹²,Fiore Mathieu²,Alessi Marie-Christine³,Bonduel Mariana⁴,Dreyfus Marie⁵,Goudemand Jenny⁶,Gruel Yves⁷,Benabdallah-Guerida Schéhérazade⁸,Latger-Cannard Véronique⁹,Négrier Claude¹⁰,Nugent Diane¹¹,Oiron Roseline d¹²,Rand Margaret L.¹³,Sié Pierre¹⁴,Trossaert Marc¹⁵,Alberio Lorenzo¹⁶,Martins Nathalie¹⁷,Sirvain-Trukniewicz Peggy¹⁷,Couloux Arnaud¹⁷,Canault Mathias³,Fronthroth Juan Pablo⁴,Fretigny Mathilde¹⁰,Nurden Paquita¹³,Heilig Roland¹⁷,Vinciguerra Christine¹⁰

Affiliation:

1. Institut de Rhythmologie et de Modélisation Cardiaque; Plateforme Technologique d'Innovation Biomédicale; Hôpital Xavier Arnozan; Pessac France

2. Université de Bordeaux; INSERM U1034 Pessac France

3. Laboratoire d'Hématologie; Hôpital La Timone; Marseille France

4. Laboratorio de Hemostasia y Thrombosis; Service de Hematologia y Oncologia; Hospital de Pediatria “Professor Juan P Garrahan”; Buenos Aires Argentina

5. Service d'Hématologie Biologique; CHU de Bicêtre; Le Kremlin-Bicêtre France

6. Laboratoire d'Hématologie; Hôpital Cardiologique; Lille France

7. Service d'Hématologie-Hémostase; Hôpital Trousseau; Tours France

8. Laboratoire d'Hématologie; Hôpital Cheikh Zaïd; Rabat Morocco

9. Service d'Hématologie Biologique; Hôpital de Brabois; CHU de Nancy; Vandoeuvre-les-Nancy; France

10. Unité d'Hémostase Clinique; Centre Régional de Traitement de l'Hémophilie; Lyon France

11. Division of Hematology; Children's Hospital of Orange County; Orange California

12. Centre de Traitement de l'Hémophilie et des Maladies Hémorragiques Constitutionnelles; CHU de Bicêtre; Le Kremlin-Bicêtre; France

13. Division of Haematology/Oncology; The Hospital for Sick Children; Toronto Canada

14. Laboratoire d'Hématologie; Hôpital Purpan; CHU Toulouse; Toulouse France

15. Laboratoire d'Hématologie; CHU de Nantes; Hôpital Hôtel-Dieu; Nantes France

16. Service et Laboratoire Central d'Hématologie; Central Hospitalier Universitaire Vaudois; Lausanne Switzerland

17. CEA - Institut de Génomique; Genoscope; Centre National de Séquencage; Université d'Evry and Unité; Mixte de Recherche N 8030 CNRS Evry France

Funder

Genoscope

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22776/fullpdf

Reference62 articles.

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3. Nonsense mutation in exon-19 of GPIIb associated with thrombasthenic phenotype. Failure of GPIIb(delta597-1008) to form stable complexes with GPIIIa;Arias-Salgado;Thromb Haemost,2002

4. A spontaneous mutation of integrin alphaIIbbeta3 (platelet GPIIb-IIIa) helps define a ligand-binding site;Bajt;J Biol Chem,1992

5. Measuring bleeding as an outcome in clinical trials of prophylactic platelet transfusions;Bercovitz;Hematol Am Soc Hematol Educ Prog,2012

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