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Article

A novel 196Leu to Pro substitution in the beta3 subunit of the alphaIIbbeta3 integrin in a patient with a variant form of Glanzmann thrombasthenia.

Platelets - 1 Mar 2002

Nurden Alan T, Ruan Jian, Pasquet Jean-Max, Gauthier Bruno, Combrié Robert, Kunicki Thomas, Nurden Paquita

Abstract excerpt

Glanzmann thrombasthenia (GT) is an inherited disorder where an absence of platelet aggregation is associated with quantitative or qualitative abnormalities of the alphaIIbbeta3 integrin. In rare patients, amino acid substitutions have provided information on the functional significance of specific domains within alphaIIb or beta3. We now report an elderly male GT patient (R.M.) from the south west of France...

Topics

Aged
Amino Acid Substitution
DNA Mutational Analysis
Family Health
Fibrinogen
Genetic Variation
Humans
Leucine
Male
Platelet Activation
Platelet Glycoprotein GPIIb-IIIa Complex

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Proline

Protein Binding

Protein Subunits

Thrombasthenia

Source

Identifiers

PMID: 11897046
DOI: 10.1080/09537100220122466

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A novel 196Leu to Pro substitution in the beta3 subunit of the alphaIIbbeta3 integrin in a patient with a variant form of Glanzmann thrombasthenia.PMID 11897046Read ↗

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