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Article

Mutations in the beta3 gene giving rise to type I Glanzmann thrombasthenia in two families in Portugal.

Platelets - 1 Feb 2004

Garcia Loida Corbillon, Breillat Christelle, Lima Margarida, Combrié Robert, Morais Sara, Teixera Maria dos Anjos, Campos Manuel, Justica Benvindo, Nurden Alan T

Abstract excerpt

Glazzmann thrombasthenia is an inherited bleeding syndrome in which an absence of platelet aggregation is associated with quantitative or qualitative deficiencies of the alphaIIbbeta3 integrin. We now describe biochemical and molecular studies on two Portuguese families where platelets lack both surface and intracellular pools of alphaIIbbeta3. DNA extraction was followed by PCR-SSCP analysis of all exons and...

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PMID: 14985172
DOI: 10.1080/0953710032000158754

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations in the beta3 gene giving rise to type I Glanzmann thrombasthenia in two families in Portugal.PMID 14985172Read ↗

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