Article
The p.R168Q mutation is associated with the Bw phenotype and a predicted decrease in the stability of the resulting ABO glycosyltransferase.
Transfusion - 1 May 2014
Lee Seung Yeob, Ihm Chunhwa, Shin Dong-Jun, Lee Ho-Jin, Yazer Mark Harris, Kim Seung Yeon, Shin Myung Geun, Shin Jong Hee, Suh Soon Pal, Ryang Dong Wook, Cho Duck
Abstract excerpt
BACKGROUND: Mutation of ABO glycosyltransferase (GT) can cause protein stability changes that can result in a weak ABO phenotype. To explain the Bw phenotype of a novel ABO*Bw allele, a protein stability of the mutant GT, which enhances the information of the three-dimensional (3D) structural analysis, was calculated. STUDY DESIGN AND METHODS: ABO serology and genotyping were performed on a neonate and her five...
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