A new heterozygous mutation in GP1BA gene responsible for macrothrombocytopenia-Reference-Cited by-同舟云学术

A new heterozygous mutation in GP1BA gene responsible for macrothrombocytopenia

Published:2017-10-30 Issue:3 Volume:183 Page:503-506
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Ghalloussi Dorsaf¹,Saut Noémie²,Bernot Denis²,Pillois Xavier³,Rameau Philippe⁴,Sébahoun Gérard⁵,Alessi Marie-Christine¹⁶,Raslova Hana⁷,Baccini Véronique¹⁵⁶^ORCID

Affiliation:

1. UMR1062 INSERM; Medicine Faculty; Aix Marseille University; Marseille France

2. Haematology laboratory; Hôpital La Timone; Assistance Publique-Hôpitaux de Marseille; Marseille France

3. INSERM 1034; Haematology Laboratory; Centre Hospitalo-Universitaire; Bordeaux France

4. PFIC, UMS AMMICA (UMS 3655 CNRS/US 23 INSERM); Gustave Roussy Cancer Campus; Villejuif France

5. Haematology Laboratory; Hôpital Nord; Assistance Publique-Hôpitaux de Marseille; Marseille France

6. Centre de Référence des Pathologies Plaquettaires; Hôpital La Timone; Assistance Publique-Hôpitaux de Marseille; Marseille France

7. INSERM 1170; Gustave Roussy Cancer Campus; Villejuif France

Publisher

Wiley

Subject

Hematology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjh.14986/fullpdf

Reference8 articles.

1. Proplatelet formation in heterozygous Bernard-Soulier syndrome type Bolzano;Balduini;Journal of Thrombosis and Haemostasis,2009

2. Novel heterozygous missense mutation in the platelet glycoprotein Ib beta gene associated with isolated giant platelet disorder;Kunishima;American Journal of Hematology,2001

3. Heterozygous loss of platelet glycoprotein (GP) Ib-V-IX variably affects platelet function in velocardiofacial syndrome (VCFS) patients;Liang;Thrombosis and Haemostasis,2007

4. Glycoprotein Ibalpha forms disulfide bonds with 2 glycoprotein Ibbeta subunits in the resting platelet;Luo;Blood,2007

5. Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome;Savoia;Blood,2001

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

3. The Copenhagen founder variant GP1BA c.58T>G is the most frequent cause of inherited thrombocytopenia in Denmark;Journal of Thrombosis and Haemostasis;2021-08-11

4. A novel mutation in GP1BA gene in a family with autosomal dominant Bernard Soulier syndrome variant: A case report;Experimental and Therapeutic Medicine;2021-02-13

5. Regulation of platelet numbers and sizes by signaling pathways;Platelets;2020-11-21