The Copenhagen founder variant GP1BA c.58T>G is the most frequent cause of inherited thrombocytopenia in Denmark-Reference-Cited by-同舟云学术

The Copenhagen founder variant GP1BA c.58T>G is the most frequent cause of inherited thrombocytopenia in Denmark

Published:2021-08-11 Issue:11 Volume:19 Page:2884-2892
ISSN:1538-7933
Container-title:Journal of Thrombosis and Haemostasis
language:en
Short-container-title:J. Thromb. Haemost.

Author:

Leinøe Eva¹²,Brøns Nanna¹^ORCID,Rasmussen Andreas Ørslev²,Gabrielaite Migle²,Zaninetti Carlo³^ORCID,Palankar Raghavendra³,Zetterberg Eva⁴,Rosthøj Steen⁵,Ostrowski Sisse Rye⁶,Rossing Maria²^ORCID

Affiliation:

1. Department of Hematology Copenhagen University HospitalRigshospitalet Copenhagen Denmark

2. Center for Genomic Medicine Copenhagen University HospitalRigshospitalet Copenhagen Denmark

3. Department of Immunology and Transfusion Medicine University Medicine Greifswald Greifswald Germany

4. Coagulation Unit Skaane University Hospital Malmø Sweden

5. Department of Pediatrics Aalborg University HospitalAalborg Denmark

6. Department of Clinical Immunology Copenhagen University HospitalRigshospitalet Copenhagen Denmark

Publisher

Wiley

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jth.15479

Reference30 articles.

1. Inherited Disorders of Platelets

2. Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIb (Bolzano mutation)

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

4. Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders

5. A new heterozygous mutation in GP1BA gene responsible for macrothrombocytopenia

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