A Trp11Arg Substitution in the β3 Signal Peptide Prevents Expression of αIIbβ3 in Patients with Glanzmann Thrombasthenia

Thromb Haemost. 2022 Nov;122(11):1951-1953. doi: 10.1055/s-0042-1756450. Epub 2022 Sep 19.

Authors

Yannick Waxmann¹, Miriam Arians¹, Gregor Bein¹, Ulrich J Sachs^{1

2}, Behnaz Bayat¹

Affiliations

¹ Institute for Clinical Immunology and Transfusion Medicine, Justus-Liebig University, Giessen, Germany.
² Department of Thrombosis and Haemostasis, Giessen University Hospital, Giessen, Germany.

PMID: 36122578
DOI: 10.1055/s-0042-1756450

No abstract available

Publication types

Letter

MeSH terms

Humans
Integrin beta3 / genetics
Mutation, Missense
Platelet Glycoprotein GPIIb-IIIa Complex / metabolism
Protein Sorting Signals
Thrombasthenia* / metabolism

Substances

Protein Sorting Signals
Platelet Glycoprotein GPIIb-IIIa Complex
Integrin beta3