Variant type Glanzmann thrombasthenia caused by homozygous p.724R > X mutation in β3 integrin

Z. Bagoly, Ferenc Fazakas, Anikó Marosi, Olga Török, Z. Bereczky, G. Haramura, Judit Tóth, J. Kappelmayer, L. Muszbek

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Abstract

This is the first report of variant type GT caused by homozygous p.724R > X mutation of β3 integrin. The mutation results in truncated cytoplasmic domain, that renders the receptor unable to undergo conformational change required for fibrinogen binding. The receptor count on non-activated platelets was moderately decreased (approximately 50% of normal), and the activation-dependent recruitment of αIIbβ3 receptor complex to the platelet surface became deficient, underlining the role for the cytoplasmic tail of β3 integrin in this process.

Original languageEnglish
Pages (from-to)427-431
Number of pages5
JournalThrombosis Research
Volume125
Issue number5
DOIs
Publication statusPublished - May 2010

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Thrombasthenia
Integrins
Blood Platelets
Mutation
Fibrinogen

ASJC Scopus subject areas

  • Hematology

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Variant type Glanzmann thrombasthenia caused by homozygous p.724R > X mutation in β3 integrin. / Bagoly, Z.; Fazakas, Ferenc; Marosi, Anikó; Török, Olga; Bereczky, Z.; Haramura, G.; Tóth, Judit; Kappelmayer, J.; Muszbek, L.

In: Thrombosis Research, Vol. 125, No. 5, 05.2010, p. 427-431.

Research output: Contribution to journalArticle

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