Founder effect and estimation of the age of the French Gypsy mutation associated with Glanzmann thrombasthenia in Manouche families

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 αIIb...

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Bibliographic Details
Main Authors: Fiore, Mathieu, Pillois, Xavier, Nurden, Paquita, Nurden, Alan T, Austerlitz, Frédéric
Format: Artigo
Language:Inglês
Published: Nature Publishing Group 2011
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3179361/
https://ncbi.nlm.nih.gov/pubmed/21487445
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.61
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