Low levels of CD9 coincidental with a novel nonsense mutation in glycoprotein Ibβ in a patient with Bernard-Soulier syndrome-Reference-Cited by-同舟云学术

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Low levels of CD9 coincidental with a novel nonsense mutation in glycoprotein Ibβ in a patient with Bernard-Soulier syndrome

Published:2015-08-16 Issue:12 Volume:94 Page:2069-2071
ISSN:0939-5555
Container-title:Annals of Hematology
language:en
Short-container-title:Ann Hematol

Author:

Qiao Jianlin,Davis Amanda K.,Morel-Kopp Marie-Christine,Ward Christopher M.,Gardiner Elizabeth E.,Andrews Robert K.

Publisher

Springer Science and Business Media LLC

Subject

Hematology,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s00277-015-2473-1.pdf

Reference9 articles.

1. Andrews RK, Berndt MC (2013) Bernard-Soulier syndrome: an update. Semin Thromb Hemost 39:656–662

2. Berndt MC, Andrews RK (2011) Bernard-Soulier syndrome. Haematologica 96:355–359

3. Savoia A, Kunishima S, De Rocco D, Zieger B, Rand ML, Pujol-Moix N, Caliskan U, Tokgoz H, Pecci A, Noris P, Srivastava A, Ward C, Morel-Kopp MC, Alessi MC, Bellucci S, Beurrier P, de Maistre E, Favier R, Hezard N, Hurtaud-Roux MF, Latger-Cannard V, Lavenu-Bombled C, Proulle V, Meunier S, Negrier C, Nurden A, Randrianaivo H, Fabris F, Platokouki H, Rosenberg N, HadjKacem B, Heller PG, Karimi M, Balduini CL, Pastore A, Lanza F (2014) Spectrum of the mutations in Bernard-Soulier syndrome. Hum Mutat 35:1033–1045

4. Qiao J, Arthur JF, Collecutt M, Shen Y, Mu FT, Berndt MC, Davis AK, Andrews RK, Gardiner EE (2012) An acquired defect associated with abnormal signaling of the platelet collagen receptor glycoprotein VI. Acta Haematol 128:233–241

5. Al-Tamimi M, Mu FT, Moroi M, Gardiner EE, Berndt MC, Andrews RK (2009) Measuring soluble platelet glycoprotein VI in human plasma by ELISA. Platelets 20:143–149

Cited by 6 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. 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

2. Elevated CD9 expression as a potential biomarker for diagnosis of Bernard-Soulier syndrome;Blood Coagulation & Fibrinolysis;2022-02-14

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

4. A Sardinian founder mutation in glycoprotein Ib platelet subunit beta ( GP1BB ) that impacts thrombocytopenia;British Journal of Haematology;2020-11-20

5. Severe macrothrombocytopenia with platelet CD9 deficiency responsive to romiplostim;British Journal of Haematology;2020-06-08

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