title: Variant type Glanzmann thrombasthenia caused by homozygous p.724R>X mutation in beta3 integrin.
authors.affiliation: Clinical Research Center, University of Debrecen, Medical and Health Science Center, Debrecen, Hungary.
authors.forename: Zsuzsa
authors.initials: Z
authors.lastname: Bagoly
authors.forename: Ferenc
authors.initials: F
authors.lastname: Fazakas
authors.forename: Anikó
authors.initials: A
authors.lastname: Marosi
authors.forename: Olga
authors.initials: O
authors.lastname: Török
authors.forename: Zsuzsanna
authors.initials: Z
authors.lastname: Bereczky
authors.forename: Gizella
authors.initials: G
authors.lastname: Haramura
authors.forename: Judit
authors.initials: J
authors.lastname: Tóth
authors.forename: János
authors.initials: J
authors.lastname: Kappelmayer
authors.forename: László
authors.initials: L
authors.lastname: Muszbek
mesh_terms: D002648:Child; D041321:Chromosomes, Human, X / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D039661:Integrin beta3 / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D013915:Thrombasthenia / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D039661:Integrin beta3