Variant type Glanzmann thrombasthenia caused by homozygous p.724R>X mutation in beta3 integrin

Thromb Res. 2010 May;125(5):427-31. doi: 10.1016/j.thromres.2010.01.002. Epub 2010 Jan 27.

Authors

Zsuzsa Bagoly¹, Ferenc Fazakas, Anikó Marosi, Olga Török, Zsuzsanna Bereczky, Gizella Haramura, Judit Tóth, János Kappelmayer, László Muszbek

Affiliation

¹ Clinical Research Center, University of Debrecen, Medical and Health Science Center, Debrecen, Hungary.

PMID: 20106508
DOI: 10.1016/j.thromres.2010.01.002

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Child
Chromosomes, Human, X / genetics*
Genetic Predisposition to Disease / genetics*
Homozygote
Humans
Integrin beta3 / genetics*
Male
Mutation / genetics
Polymorphism, Single Nucleotide / genetics*
Thrombasthenia / diagnosis*
Thrombasthenia / genetics*

Substances

Integrin beta3