Biological, clinical features and modelling of heterozygous variants of glycoprotein Ib platelet subunit alpha <scp> ( <i>GP1BA</i> ) </scp> and glycoprotein Ib platelet subunit beta ( <scp> <i>GP1BB</i> ) </scp> genes responsible for constitutional thrombocytopenia-Reference-Cited by-同舟云学术

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

Published:2022-09-29 Issue:5 Volume:199 Page:744-753
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Dib Fatema¹,Quéméner Agnès²,Bayart Sophie³,Boisseau Pierre⁴,Babuty Antoine¹⁵^ORCID,Trossaërt Marc¹⁵,Sigaud Marianne¹⁵,Ternisien Catherine¹⁵,Drillaud Nicolas¹⁵^ORCID,Eveillard Marion¹²^ORCID,Guillet Benoit³⁶,Béné Marie C.¹²^ORCID,Fouassier Marc¹⁵^ORCID

Affiliation:

1. Service d’Hématologie Biologique, CHU de Nantes Nantes France

2. Nantes Université, Inserm UMR 1307, CNRS UMR 6075 Université d’Angers, CRCI2NA Nantes France

3. CRC‐MH, CHU de Rennes Rennes France

4. Service de Génétique Médicale CHU de Nantes Nantes France

5. CRC‐MH, CHU de Nantes Nantes France

6. Univ Rennes, CHU Rennes, Inserm, EHESP Irset (Institut de recherche en santé, environnement et travail) ‐ UMR_S 1085 Rennes France

Publisher

Wiley

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjh.18462

Reference48 articles.

1. Sur Une nouvelle variété de dystrophie thrombocytaire hémoŗragipare congénitale [on a new variety of congenital thrombocytary hemoragiparous dystrophy];Bernard J;Sem Hop,1948

2. Bernard-Soulier syndrome

3. Bernard-Soulier syndrome (Hemorrhagiparous thrombocytic dystrophy)

4. Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome

5. Novel point mutation in a leucine-rich repeat of the GPIb chain of the platelet von Willebrand factor receptor, GPIb/IX/V, resulting in an inherited dominant form of Bernard-Soulier syndrome affecting two unrelated families: the N41H variant

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