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Article

Illegitimate transcription: its use for studying genetic abnormalities in lymphoblastoid cells from patients with Glanzmann thrombasthenia.

British journal of haematology - 1 Jan 1998

Negrier C, Vinciguerra C, Attali O, Grenier C, Larcher M E, Dechavanne M

Abstract excerpt

Glanzmann thrombasthenia is the most common inherited disorder of platelets that may induce severe bleeding complications. Molecular biology techniques have offered the possibility to assess the basis of this chronic haemorrhagic disease at the molecular level. However, the accessibility of mRNA in platelets is limited by the availability of the patient's blood samples and the relatively weak amount of this...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 9450787
DOI: 10.1046/j.1365-2141.1998.00515.x

Genes

GCA

Provenance

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.

Related research

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Illegitimate transcription: its use for studying genetic abnormalities in lymphoblastoid cells from patients with Glanzmann thrombasthenia.PMID 9450787Read ↗

Type I Glanzmann thrombasthenia caused by an apparently silent beta3 mutation that results in aberrant splicing and reduced beta3 mRNA.Semantic proximity Read ↗

Mutations in the alphaIIb and beta3 genes that cause Glanzmann thrombasthenia can be distinguished by a simple procedure using transformed B-lymphocytes.Semantic proximity Read ↗

Illegitimate transcription. Application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from Duchenne and Becker patients.Semantic proximity Read ↗

Inherited diseases of platelet glycoproteins: considerations for rapid molecular characterization.Semantic proximity Read ↗

The molecular genetic basis of Glanzmann's thrombasthenia in a gypsy population in France: identification of a new mutation on the alpha IIb gene.Semantic proximity Read ↗

Illegitimate transcription: its use in the study of inherited disease.Semantic proximity Read ↗

Molecular genetic analysis of a compound heterozygote for the glycoprotein (GP) IIb gene associated with Glanzmann's thrombasthenia: disruption of the 674-687 disulfide bridge in GPIIb prevents surface exposure of GPIIb-IIIa complexes.Semantic proximity Read ↗

A novel homozygous mutation (1619delC) in GPIIb gene associated with Glanzmann thrombasthenia, the decay of GPIIb-mRNA and the synthesis of a truncated GPIIb unable to form complex with GPIIIa.Semantic proximity Read ↗

Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection.Semantic proximity Read ↗

Identification of an abnormal gene for the GPIIIa subunit of the platelet fibrinogen receptor resulting in Glanzmann's thrombasthenia.Semantic proximity Read ↗

Molecular study of Glanzmann thrombasthenia in 3 patients issued from 2 different families.Semantic proximity Read ↗

Ectopic transcript analysis in human antithrombin deficiency.Semantic proximity Read ↗

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