Detection by PCR and HphI restriction analysis of a splice site mutation at the 5' end of intron 15 of the platelet GPIIb (alpha IIb integrin) gene responsible for Glanzmann's thrombasthenia type I in Gypsies originating from the Strasbourg area.
de la Salle
C
C
Schwartz
A
A
Baas
M J
MJ
Lanza
F
F
Cazenave
J P
JP
D001483:Base Sequence; D005602:France; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D009154:Mutation; D019039:Platelet Glycoprotein GPIIb-IIIa Complex / Q000235:genetics*; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping; D006178:Romani People / Q000235:genetics*; D013915:Thrombasthenia / Q000235:genetics*
D019039:Platelet Glycoprotein GPIIb-IIIa Complex