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Updated: Aug 16, 2026
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Expression of low-frequency Ala108Pro substitution in the platelet glycoprotein Ibbeta gene
S Kunishima1, C Gassner, C Inoue
1Japanese Red Cross Aichi Blood Center, Seto, Japan. kunisima@met.nagoya-u.ac.jp
Abstract:
We determined the gene frequency of the glycoprotein (GP) Ibbeta Ala108Pro substitution. The Pro108 allele was not found in 208 healthy Japanese and 200 healthy Caucasians. In vitro expression studies showed surface expression of the GPIbbeta Pro108 variant, suggesting the possibility of the involvement of the substitution as an alloantigen.
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