Novel point mutations in the alphaIIb subunit (Phe289-->Ser, Glu324-->Lys and Gln747-->Pro) causing thrombasthenic phenotypes in four Japanese patients.

doi:10.1046/j.1365-2141.1998.00824.x

Article

Novel point mutations in the alphaIIb subunit (Phe289-->Ser, Glu324-->Lys and Gln747-->Pro) causing thrombasthenic phenotypes in four Japanese patients.

British journal of haematology - 1 Aug 1998

Ambo H, Kamata T, Handa M, Kawai Y, Oda A, Murata M, Takada Y, Ikeda Y

Abstract excerpt

We analysed the molecular basis of Glanzmann thrombasthenia (GT) in four Japanese patients with type I or type II disease. Polymerase chain reaction (PCR) and subsequent direct sequencing of platelet RNA and genomic DNA revealed three single nucleotide substitutions of the alphaIIb gene, which we...

Topics

Adult
Aged
Base Sequence
Female
Humans
Molecular Sequence Data
Phenotype
Platelet Glycoprotein GPIIb-IIIa Complex
Point Mutation
Polymerase Chain Reaction
RNA, Messenger
Thrombasthenia

Novel point mutations in the alphaIIb subunit (Phe289-->Ser, Glu324-->Lys and Gln747-->Pro) causing thrombasthenic phenotypes in four Japanese patients.

Abstract excerpt

Topics

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