Glanzmann's thrombasthenia associated with deletion-insertion and alternative splicing in the glycoprotein IIb gene.

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Article

Glanzmann's thrombasthenia associated with deletion-insertion and alternative splicing in the glycoprotein IIb gene.

Blood - 15 Jan 1995

Peretz H, Rosenberg N, Usher S, Graff E, Newman P J, Coller B S, Seligsohn U

Abstract excerpt

Glanzmann's thrombasthenia is a bleeding disorder characterized by a decrease or absence of the functional platelet membrane glycoprotein (GP) complex, GPIIb/IIIa (alpha IIb beta 3). We describe a new deletion-insertion mutation in the GPIIb gene causing type I Glanzmann's thrombasthenia in two s...

Topics

Adult
Amino Acid Sequence
Animals
Base Sequence
Cell Line, Transformed
Chlorocebus aethiops
Consanguinity
DNA, Complementary
Female
Genotype
Glycoproteins
Humans
Iran
Israel
Jews
Male
Molecular Sequence Data
Platelet Activation

Source

Open in PubMed

Identifiers

PMID: 7529063

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7529063-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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