The limitation of genetic testing in diagnosing patients suspected for congenital platelet defects-Reference-Cited by-同舟云学术

The limitation of genetic testing in diagnosing patients suspected for congenital platelet defects

Published:2019-11-13 Issue:1 Volume:95 Page:
ISSN:0361-8609
Container-title:American Journal of Hematology
language:en
Short-container-title:Am J Hematol

Author:

Blaauwgeers Maaike W.¹^ORCID,Asten Ivar¹²³,Kruip Marieke J.H.A.⁴,Beckers Erik A.M.⁵,Coppens Michiel⁶,Eikenboom Jeroen⁷,Galen Karin P.M.¹,Huisman Albert³^ORCID,Korporaal Suzanne J.A.³⁸,Ploos van Amstel Hans Kristian⁹,Tamminga Rienk Y.J.¹⁰,Urbanus Rolf T.¹²^ORCID,Schutgens Roger E.G.¹

Affiliation:

1. Van CreveldkliniekUniversity Medical Center Utrecht, University Utrecht Utrecht The Netherlands

2. Van Creveld LaboratoryUniversity Medical Center Utrecht, University Utrecht Utrecht The Netherlands

3. Center for Circulatory Health, Department of Clinical Chemistry and HaematologyUniversity Medical Center Utrecht, University Utrecht Utrecht The Netherlands

4. Department of HaematologyErasmus University Medical Center Rotterdam The Netherlands

5. Department of HematologyMaastricht University Medical Center Maastricht The Netherlands

6. Department of Vascular Medicine, Amsterdam Cardiovascular SciencesAmsterdam University Medical Center, location AMC Amsterdam The Netherlands

7. Department of Internal Medicine, division of Thrombosis and HaemostasisLeiden University Medical Center Leiden The Netherlands

8. Laboratory of Experimental CardiologyUniversity Medical Center Utrecht, University Utrecht Utrecht The Netherlands

9. Department of Medical GeneticsUniversity Medical Center Utrecht, University Utrecht Utrecht The Netherlands

10. Department of Pediatric HematologyBeatrix Children's Hospital, University Medical Center Groningen Groningen The Netherlands

Publisher

Wiley

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajh.25667

Reference10 articles.

1. Current status and future prospects for platelet function testing in the diagnosis of inherited bleeding disorders

2. Inherited platelet disorders: toward DNA-based diagnosis

3. Diagnosis of inherited platelet function disorders: guidance from the SSC of the ISTH

4. What is the role of genetic testing in the investigation of patients with suspected platelet function disorders?

5. Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders

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