A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome-Reference-Cited by-同舟云学术

A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome

Published:2018-10-17 Issue:8 Volume:29 Page:827-833
ISSN:0953-7104
Container-title:Platelets
language:en
Short-container-title:Platelets

Author:

Trizuljak Jakub¹²,Kozubík Kateřina Staňo¹²,Radová Lenka²,Pešová Michaela²,Pál Karol²,Réblová Kamila²,Stehlíková Olga¹,Smejkal Petr³⁴,Zavřelová Jiřina³⁴,Pacejka Milan⁵,Mayer Jiří¹²,Pospíšilová Šárka¹²,Doubek Michael¹²^ORCID

Affiliation:

1. Department of Internal Medicine- Hematology and Oncology, University Hospital Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic

2. Central European Institute of Technology, Masaryk University, Brno, Czech Republic

3. Department of Clinical Hematology, University Hospital Brno, Brno, Czech Republic

4. Department of Laboratory Methods, Faculty of Medicine, Masaryk University, Brno, Czech Republic

5. Outpatient Ward for Hematology and Internal Medicine, Zlín, Czech Republic

Funder

Grant Agency, Ministry of Health, Czech Republic

Publisher

Informa UK Limited

Subject

Hematology,General Medicine

Link

https://www.tandfonline.com/doi/pdf/10.1080/09537104.2018.1529300

Reference26 articles.

1. Diagnosis and treatment of inherited thrombocytopenias

2. Molecular basis of inherited thrombocytopenias

3. Bernard-Soulier Syndrome

4. Spectrum of the Mutations in Bernard-Soulier Syndrome

5. Bernard-Soulier Syndrome: An Update

Cited by 10 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Bernard–Soulier Syndrome: A Review of Epidemiology, Molecular Pathology, Clinical Features, Laboratory Diagnosis, and Therapeutic Management;Seminars in Thrombosis and Hemostasis;2024-08-27

2. DIAPH1 mutations predict a favorable outcome for de novo MDS;Cancer Letters;2024-08

3. Biological, clinical features and modelling of heterozygous variants of glycoprotein Ib platelet subunit alpha ( GP1BA ) and glycoprotein Ib platelet subunit beta ( GP1BB ) genes responsible for constitutional thrombocytopenia;British Journal of Haematology;2022-09-29

4. A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome;International Journal of Molecular Sciences;2022-01-14

5. Pathogenic Aspects of Inherited Platelet Disorders;Hämostaseologie;2021-12