作者:
Matthew C,Sims [1]
;
Louisa,Mayer [2]
;
Janine H,Collins [3]
;
Tadbir K,Bariana [4]
;
Karyn,Megy [5]
;
Cecile,Lavenu-Bombled [6]
;
Denis,Seyres [5]
;
Laxmikanth,Kollipara [7]
;
Frances S,Burden [5]
;
Daniel,Greene [8]
;
Dave,Lee [9]
;
Antonio,Rodriguez-Romera [2]
;
Marie-Christine,Alessi [10]
;
William J,Astle [11]
;
Wadie F,Bahou [12]
;
Loredana,Bury [13]
;
Elizabeth,Chalmers [14]
;
Rachael,Da Silva [9]
;
Erica,De Candia [15]
;
Sri V V,Deevi [16]
;
Samantha,Farrow [5]
;
Keith,Gomez [17]
;
Luigi,Grassi [5]
;
Andreas,Greinacher [18]
;
Paolo,Gresele [13]
;
Dan,Hart [19]
;
Marie-Françoise,Hurtaud [6]
;
Anne M,Kelly [20]
;
Ron,Kerr [21]
;
Sandra,Le Quellec [22]
;
Thierry,Leblanc [6]
;
Eva B,Leinøe [23]
;
Rutendo,Mapeta [16]
;
Harriet,McKinney [5]
;
Alan D,Michelson [24]
;
Sara,Morais [25]
;
Diane,Nugent [26]
;
Sofia,Papadia [5]
;
Soo J,Park [27]
;
John,Pasi [19]
;
Gian Marco,Podda [28]
;
Man-Chiu,Poon [29]
;
Rachel,Reed [9]
;
Mallika,Sekhar [30]
;
Hanna,Shalev [31]
;
Suthesh,Sivapalaratnam [32]
;
Orna,Steinberg-Shemer [33]
;
Jonathan C,Stephens [16]
;
Robert C,Tait [34]
;
Ernest,Turro [35]
;
John K M,Wu [36]
;
Barbara,Zieger [37]
;
NIHR BioResource [38]
;
Taco W,Kuijpers [9]
;
Anthony D,Whetton [39]
;
Albert,Sickmann [40]
;
Kathleen,Freson [16]
;
Kate,Downes [41]
;
Wendy N,Erber [42]
;
Mattia,Frontini [43]
;
Paquita,Nurden [44]
;
Willem H,Ouwehand [45]
;
Remi,Favier [2]
;
Jose A,Guerrero
作者单位:
Department of Haematology, University of Cambridge, and.;National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.;Oxford Haemophilia and Thrombosis Centre, Oxford University Hospitals NHS Foundation Trust, NIHR Oxford Biomedical Research Centre, Oxford, United Kingdom.
[1]
Department of Haematology, University of Cambridge, and.;National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.
[2]
Department of Haematology, University of Cambridge, and.;National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.;Department of Haematology, Barts Health NHS Trust, London, United Kingdom.
[3]
Department of Haematology, University of Cambridge, and.;Department of Haematology, Barts Health NHS Trust, London, United Kingdom.;Royal Free London NHS Foundation Trust, London, United Kingdom.
[4]
Department of Haematology, University of Cambridge, and.;National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.;NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.
[5]
Assistance Publique-Hôpitaux de Paris, Centre de Reference des Pathologies Plaquettaires, Hôpitaux Armand Trousseau, Bicêtre, Robert Debré, Paris, France.
[6]
Leibniz-Institut für Analytische Wissenschaften-ISAS-e. V., Dortmund, Germany.
[7]
Department of Haematology, University of Cambridge, and.;NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.;Medical Research Council Biostatistics Unit, Forvie Site, Cambridge Biomedical Campus, Cambridge, United Kingdom.
[8]
Stoller Biomarker Discovery Centre, Division of Cancer Sciences, School of Medical Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, United Kingdom.
[9]
Centre for CardioVascular and Nutrition Research, INSERM 1263, INRAE 1260, Marseille, France.
[10]
National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.;Medical Research Council Biostatistics Unit, Forvie Site, Cambridge Biomedical Campus, Cambridge, United Kingdom.
[11]
Department of Medicine, Stony Brook University, Stony Brook, NY.
[12]
Department of Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy.
[13]
Royal Hospital for Sick Children, Glasgow, United Kingdom.
[14]
Institute of Internal Medicine and Geriatrics, Catholic University School of Medicine, Rome, Italy.;Fondazione Policlinico Universitario Agostino Gemelli Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
[15]
Department of Haematology, University of Cambridge, and.;NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.
[16]
Royal Free London NHS Foundation Trust, London, United Kingdom.
[17]
Institut für Immunologie und Transfusionsmedizin, Universitätsmedizin Greifswald, Greifswald, Germany.
[18]
The Royal London Hospital Haemophilia Centre, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.
[19]
Department of Haematology, University of Cambridge, and.
[20]
Department of Haematology, Ninewells Hospital and Medical School, Dundee, United Kingdom.
[21]
Service d'Hématologie Biologique, Hospices Civils de Lyon, Lyon, France.
[22]
Department of Haematology, Rigshospitalet, Copenhagen, Denmark.
[23]
Center for Platelet Research Studies, Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA.
[24]
Serviço de Hematologia Clínica, Hospital de Santo António, Centro Hospitalar Universitário do Porto, Porto, Portugal.;Unidade Multidisciplinar de Investigação Biomédica, Instituto de Ciências Biomédicas, Universidade do Porto, Porto, Portugal.
[25]
Center for Inherited Bleeding Disorders, Children's Hospital of Orange County, Orange, CA.
[26]
Division of Hematology and Oncology, Moores Cancer Center, University of California, San Diego, La Jolla, CA.
[27]
Unità di Medicina 2, ASST Santi Paolo e Carlo, Dipartimento di Scienze della Salute, Università degli Studi di Milano, Milan, Italy.
[28]
University of Calgary Cumming School of Medicine and Southern Alberta Rare Blood and Bleeding Disorders Comprehensive Care Program, Calgary, AB, Canada.
[29]
Department of Haematology, Royal Free London NHS Trust, London, United Kingdom.
[30]
Department of Pediatric Hematology/Oncology, Soroka Medical Center, Faculty of Medicine, Ben-Gurion University, Beer Sheva, Israel.
[31]
Department of Haematology, University of Cambridge, and.;Department of Haematology, Barts Health NHS Trust, London, United Kingdom.
[32]
Department of Hematology-Oncology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.;Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
[33]
Department of Haematology, Royal Infirmary, Glasgow, United Kingdom.
[34]
Department of Haematology, University of Cambridge, and.;National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.;NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.;Medical Research Council Biostatistics Unit, Forvie Site, Cambridge Biomedical Campus, Cambridge, United Kingdom.
[35]
Division of Hematology-Oncology, University of British Columbia and BC Children's Hospital, Vancouver, BC, Canada.
[36]
Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center-Faculty of Medicine, University of Freiburg, Freiburg, Germany.
[37]
Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Emma Children's Hospital, Amsterdam University Medical Center, Amsterdam, The Netherlands.;Sanquin Research Institute, Department of Blood Cell Research, University of Amsterdam, Amsterdam, The Netherlands.
[38]
Leibniz-Institut für Analytische Wissenschaften-ISAS-e. V., Dortmund, Germany.;Department of Chemistry, College of Physical Sciences, University of Aberdeen, Aberdeen, United Kingdom.;Medizinische Fakultät, Medizinisches Proteom Center, Ruhr-Universität Bochum, Bochum, Germany.
[39]
Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium.
[40]
Faculty of Health and Medical Sciences, The University of Western Australia, Crawley, Australia.;PathWest Laboratory Medicine, The University of Western Australia, Nedlands, Australia.
[41]
Department of Haematology, University of Cambridge, and.;National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.;British Heart Foundation, Cambridge Centre for Research Excellence, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.
[42]
Institut Hospitalo-Universitaire L'Institut de Rythmologie et Modélisation Cardiaque, Plateforme Technologique d'Innovation Biomédicale, Hôpital Xavier Arnozan, Pessac, France.
[43]
Department of Haematology, University of Cambridge, and.;National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.;NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.;Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom; and.
[44]
Assistance Publique-Hôpitaux de Paris, Centre de Reference des Pathologies Plaquettaires, Hôpitaux Armand Trousseau, Bicêtre, Robert Debré, Paris, France.;INSERM Unité Mixte de Recherche 1170, Gustave Roussy Cancer Campus, Universite Paris-Saclay, Villejuif, France.
[45]
主题词
活组织检查(Biopsy);血蛋白质类(Blood Proteins);病例对照研究(Case-Control Studies);队列研究(Cohort Studies);细胞质颗粒(Cytoplasmic Granules);诊断, 鉴别(Diagnosis, Differential);基因频率(Gene Frequency);遗传关联研究(Genetic Association Studies);遗传异质性(Genetic Heterogeneity);灰色血小板综合征(Gray Platelet Syndrome);人类(Humans);免疫系统(Immune System);免疫系统疾病(Immune System Diseases);突变(Mutation);表型(Phenotype)
DOI
10.1182/blood.2019004776
PMID
32693407
发布时间
2024-08-16
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