A Leu117-->Trp mutation within the RGD-peptide cross-linking region of beta3 results in Glanzmann thrombasthenia by preventing alphaIIb beta3 export to the platelet surface.

Source:http://linkedlifedata.com/resource/pubmed/id/9376589

Blood 1997 Oct 15 90 8 3082-8

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PMID
9376589