Variant type Glanzmann thrombasthenia caused by homozygous p.724R>X mutation in beta3 integrin.
Bagoly
Zsuzsa
Z
Clinical Research Center, University of Debrecen, Medical and Health Science Center, Debrecen, Hungary.
Fazakas
Ferenc
F
Marosi
Anikó
A
Török
Olga
O
Bereczky
Zsuzsanna
Z
Haramura
Gizella
G
Tóth
Judit
J
Kappelmayer
János
J
Muszbek
László
L
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*
D039661:Integrin beta3