Phenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder

被引：30

作者：

Westbury, Sarah K. ^{[1
,2
,3
]}

Downes, Kate ^{[3
,4
,5
]}

Burney, Claire ^{[6
]}

Lozano, Maria L. ^{[7
]}

Obaji, Samya G. ^{[8
]}

Toh, Cheng Hock ^{[9
,10
]}

Sevivas, Teresa ^{[11
]}

Morgan, Neil V. ^{[12
]}

Erber, Wendy N. ^{[3
,13
,14
,15
]}

Kempster, Carly ^{[4
,5
]}

Moore, Samantha F. ^{[16
]}

Thys, Chantal ^{[17
]}

Papadia, Sofia ^{[3
,4
]}

Ouwehand, Willem H. ^{[3
,4
,5
,18
,19
]}

Laffan, Michael A. ^{[3
,20
,21
]}

Gomez, Keith ^{[3
,22
,23
]}

Freson, Kathleen ^{[3
,17
]}

Rivera, Jose ^{[7
]}

Mumford, Andrew D. ^{[1
,2
,3
]}

机构：

[1] Univ Bristol, Sch Cellular & Mol Med, Bristol, Avon, England

[2] Univ Bristol, Sch Clin Sci, Bristol, Avon, England

[3] Cambridge Univ Hosp, NIHR BioResource Rare Dis, Cambridge, England

[4] Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge, England

[5] NHS Blood & Transplant, Cambridge Biomed Campus, Cambridge, England

[6] Univ Hosp Bristol NHS Fdn Trust, Bristol, Avon, England

[7] Univ Murcia, Hosp Univ Morales Meseguer, Centro Reg Hemodonac, Serv Hematol & Oncol Med,IMIB Arrixaca,CIBERER U7, Murcia, Spain

[8] Cardiff Univ, Sch Med, Dept Haematol, Cardiff, S Glam, Wales

[9] Royal Liverpool Univ Hosp, Roald Dahl Haemostasis & Thrombosis Ctr, Liverpool, Merseyside, England

[10] Univ Liverpool, Inst Infect & Global Hlth, Liverpool, Merseyside, England

[11] Ctr Hosp Univ Coimbra, Serv Sangue Med Transfus & Imunohemoterapia, Coimbra, Portugal

[12] Univ Birmingham, Coll Med & Dent Sci, Inst Cardiovasc Sci, Birmingham, W Midlands, England

[13] Univ Western Australia, Sch Med, Crawley, WA, Australia

[14] Univ Western Australia, Sch Biomed Sci, Crawley, WA, Australia

[15] PathWest Lab Med WA, Nedlands, WA, Australia

[16] Univ Bristol, Sch Physiol Pharmacol & Neurosci, Bristol, Avon, England

[17] Univ Leuven, Ctr Mol & Vasc Biol, Dept Cardiovasc Sci, Leuven, Belgium

[18] Cambridge Inst Publ Hlth, Med Res Council, Biostat Unit, Cambridge Biomed Campus, Cambridge, England

[19] Wellcome Trust Sanger Inst, Wellcome Trust Genome Campus, Cambridge, England

[20] Imperial Coll London, Imperial Coll, Acad Hlth Sci Ctr, Ctr Haematol, Hammersmith Campus, London, England

[21] Imperial Coll Healthcare NHS Trust, London, England

[22] Royal Free London NHS Fdn Trust, Katharine Dormandy Haemophilia Ctr, London, England

[23] Royal Free London NHS Fdn Trust, Thrombosis Unit, London, England

来源：

BLOOD ADVANCES | 2018年 / 2卷 / 18期

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

INHERITED PLATELET DISORDERS; HEARING-LOSS; ELTROMBOPAG; THROMBOCYTOPENIA; DIAPH1; MACROTHROMBOCYTOPENIA; ACTIVATION; MUTATIONS; DIAGNOSIS; DISEASE;

D O I：

10.1182/bloodadvances.2018020370

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：2341 / 2346

页数：6

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