Literature DB >> 29082515

A new heterozygous mutation in GP1BA gene responsible for macrothrombocytopenia.

Dorsaf Ghalloussi1, Noémie Saut2, Denis Bernot2, Xavier Pillois3, Philippe Rameau4, Gérard Sébahoun5, Marie-Christine Alessi1,6, Hana Raslova7, Véronique Baccini1,5,6.   

Abstract

Entities:  

Keywords:  macrothrombocytopenia; megakaryocytopoiesis; platelet genetic diseases; platelet membrane; platelets

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Substances：

Year:  2017        PMID： 29082515     DOI： 10.1111/bjh.14986

Source DB:  PubMed          Journal:  Br J Haematol        ISSN： 0007-1048            Impact factor:   6.998


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  3 in total

1.  A novel mutation in GP1BA gene in a family with autosomal dominant Bernard Soulier syndrome variant: A case report.

Authors:  Jingyao Ma; Zhenping Chen; Gang Li; Hao Gu; Runhui Wu
Journal:  Exp Ther Med       Date:  2021-02-13       Impact factor: 2.447

2.  A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome.

Authors:  Magdalena Skalníková; Kateřina Staňo Kozubík; Jakub Trizuljak; Zuzana Vrzalová; Lenka Radová; Kamila Réblová; Radka Holbová; Terézia Kurucová; Hana Svozilová; Jiří Štika; Ivona Blaháková; Barbara Dvořáčková; Marie Prudková; Olga Stehlíková; Michal Šmída; Leoš Křen; Petr Smejkal; Šárka Pospíšilová; Michael Doubek
Journal:  Int J Mol Sci       Date:  2022-01-14       Impact factor: 5.923

3.  The Copenhagen founder variant GP1BA c.58T>G is the most frequent cause of inherited thrombocytopenia in Denmark.

Authors:  Eva Leinøe; Nanna Brøns; Andreas Ørslev Rasmussen; Migle Gabrielaite; Carlo Zaninetti; Raghavendra Palankar; Eva Zetterberg; Steen Rosthøj; Sisse Rye Ostrowski; Maria Rossing
Journal:  J Thromb Haemost       Date:  2021-08-11       Impact factor: 16.036
  3 in total

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