Novel Mutation of the GPIIIa Gene in the Russian Population, Leu40Arg, Linked to the Leu33Pro

Novel Mutation of the GPIIIa Gene in the Russian Population, Leu40Arg, Linked to the Leu33Pro Glycoprotein IIb/IIIa complex, a platelet surface fibrinogen receptor, plays a key role in producing primary hemostasis. At present, only a single mutation in the GPIIIa gene, Leu33Pro, and a single mutation in the GPIIb gene, Ile843Ser, has been described. The mutations are known to enhance signaling functions of the receptor and are associated with the development of arterial thromboses. In the present study, we describe a novel GPIIIa mutation, which is T to G nucleotide substitution in position 1585, resulting in the replacement of Leu for Arg in position 40 of the amino acid sequence of the protein. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Russian Journal of Genetics Springer Journals

Novel Mutation of the GPIIIa Gene in the Russian Population, Leu40Arg, Linked to the Leu33Pro

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Publisher
Nauka/Interperiodica
Copyright
Copyright © 2005 by MAIK “Nauka/Interperiodica”
Subject
Biomedicine; Human Genetics; Microbial Genetics and Genomics; Animal Genetics and Genomics
ISSN
1022-7954
eISSN
1608-3369
D.O.I.
10.1007/s11177-005-0145-2
Publisher site
See Article on Publisher Site

Abstract

Glycoprotein IIb/IIIa complex, a platelet surface fibrinogen receptor, plays a key role in producing primary hemostasis. At present, only a single mutation in the GPIIIa gene, Leu33Pro, and a single mutation in the GPIIb gene, Ile843Ser, has been described. The mutations are known to enhance signaling functions of the receptor and are associated with the development of arterial thromboses. In the present study, we describe a novel GPIIIa mutation, which is T to G nucleotide substitution in position 1585, resulting in the replacement of Leu for Arg in position 40 of the amino acid sequence of the protein.

Journal

Russian Journal of GeneticsSpringer Journals

Published: Jul 15, 2005

References

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