Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia-Reference-Cited by-同舟云学术

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia

Published:2017-01-26 Issue:4 Volume:129 Page:520-524
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Sivapalaratnam Suthesh¹²³,Westbury Sarah K.⁴^ORCID,Stephens Jonathan C.¹²⁵,Greene Daniel¹²⁶,Downes Kate¹²⁵,Kelly Anne M.⁷,Lentaigne Claire⁸⁹,Astle William J.¹²⁶,Huizinga Eric G.¹⁰,Nurden Paquita¹¹,Papadia Sofia¹²,Peerlinck Kathelijne¹²,Penkett Christopher J.¹²,Perry David J.¹³,Roughley Catherine¹⁴,Simeoni Ilenia¹²⁵,Stirrups Kathleen¹²,Hart Daniel P.³,Tait R. Campbell¹⁵,Mumford Andrew D.⁴¹⁶,Laffan Michael A.⁸⁹,Freson Kathleen¹²,Ouwehand Willem H.¹²⁵¹⁷,Kunishima Shinji¹⁸,Turro Ernest¹²⁵⁶^ORCID,

Affiliation:

1. Department of Haematology, University of Cambridge, Cambridge, United Kingdom;

2. National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals, Cambridge, United Kingdom;

3. Department of Haematology, Barts Health National Health Service Trust, London, United Kingdom;

4. School of Clinical Sciences, University of Bristol, Bristol, United Kingdom;

5. National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;

6. Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, United Kingdom;

7. Department of Haematology, Great Ormond Street Hospital for Children National Health Service Trust, London, United Kingdom;

8. Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, London, United Kingdom;

9. Imperial College Healthcare National Health Service Trust, London, United Kingdom;

10. Crystal and Structural Chemistry, Department of Chemistry, Faculty of Science, Bijvoet Center for Biomolecular Research, Utrecht University, Utrecht, The Netherlands;

11. Institut Hospitalo-Universitaire LIRYC, Hôpital Xavier Arnozan, Pessac, France;

12. Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium;

13. Department of Haematology, Addenbrooke’s Hospital, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom;

14. Kent Haemophilia Thrombosis Centre at East Kent Hospitals University NHS Foundation Trust, Canterbury, United Kingdom;

15. Department of Haematology, Royal Infirmary, Glasgow, United Kingdom;

16. School of Cellular and Molecular Medicine, University of Bristol, Bristol, United Kingdom;

17. Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom; and

18. Department of Advanced Diagnosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan

Abstract

Key Points Variants in GP1BB can cause autosomal dominant macrothrombocytopenia.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/129/4/520/1401745/blood732248.pdf

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