Novel mutation in the glycoprotein Ibβ in a patient with Bernard–Soulier syndrome-Reference-Cited by-同舟云学术

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Novel mutation in the glycoprotein Ibβ in a patient with Bernard–Soulier syndrome

Published:2012-06 Issue:4 Volume:23 Page:335-337
ISSN:0957-5235
Container-title:Blood Coagulation & Fibrinolysis
language:en
Short-container-title:

Author:

Mahfouz Rami A.,Bolz Hanno J.,Otrock Zaher K.,Bergmann Carsten,Muwakkit Samar

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Hematology,General Medicine

Reference16 articles.

1. Bernard-Soulier syndrome.;Lopez;Blood,1998

2. Bernard-Soulier syndrome: an inherited platelet disorder.;Pham;Arch Pathol Lab Med,2007

3. Biochemical and molecular basis of Bernard-Soulier syndrome: a review.;de la Salle;Nouv Rev Fr Hematol,1995

4. Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy).;Lanza;Orphanet J Rare Dis,2006

5. Genetic abnormalities of Bernard-Soulier syndrome.;Kunishima;Int J Hematol,2002

Cited by 3 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. A review of the diverse genetic disorders in the Lebanese population: highlighting the urgency for community genetic services;Journal of Community Genetics;2014-09-27

3. Spectrum of the Mutations in Bernard-Soulier Syndrome;Human Mutation;2014-07-15

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