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Three novel mutations in the glycoprotein IIb gene in a patient with type II Glanzmann thrombasthenia.

Haematologica - 1 May 2007

Losonczy Gergely, Rosenberg Nurit, Boda Zoltán, Vereb György, Kappelmayer János, Hauschner Hagit, Bereczky Zsuzsanna, Muszbek László

Abstract excerpt

In the platelets of a type II Glanzmann thrombasthenia patient, the amount of glycoprotein (GP) IIb and IIIa was significantly reduced. Three novel mutations were identified in the GPIIb gene (c.440C->G/p.Leu116Val, c.1772_1773insG/p.Asp560GlyfsX16 and c.2438C->A/p.His782Asn). p.Leu116Val did not...

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PMID: 17488698
DOI: 10.3324/haematol.10847

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17488698-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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