Article
Founder effect and estimation of the age of the French Gypsy mutation associated with Glanzmann thrombasthenia in Manouche families.
European journal of human genetics : EJHG - 1 Sept 2011
Fiore Mathieu, Pillois Xavier, Nurden Paquita, Nurden Alan T, Austerlitz Frédéric
Abstract excerpt
The c.1544+1G>A substitution at the 5' splice donor site of intron 15 of the ITGA2B gene, called the French Gypsy mutation, causes Glanzmann thrombasthenia, an inherited hemorrhagic disorder transmitted as an autosomal recessive trait and characterized by an altered synthesis of the platelet αIIbβ3 integrin. So far, this mutation has only been found in affected individuals originating from French Manouche...
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