Article
A novel FUT1*c.889C>T allele associated with the para-Bombay AB phenotype and computational evaluation of the mutation effect.
Transfusion - 1 May 2023
Luo Hong, Shao Yuan, Wen Jizhi, Chen Zhixiao, Ji Yanli, Wang Jiali, Wang Zhen, Luo Guangping
Abstract excerpt
BACKGROUND: Mutation in the FUT1 gene can impact the structure and function of α-(1,2)-fucosyltransferase 1 (α2FucT1). To explain the para-Bombay phenotype of a novel FUT1 allele, three-dimensional (3D) modeling and mutation effect analysis of α2FucT1 were performed by bioinformatic tools. MATERIALS AND METHODS: Blood and saliva samples were collected from a patient who was suspected to be a para-Bombay...
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