Article
Identification of a novel FUT1 allele with two mutations in a Chinese para-Bombay individual.
Transfusion - 1 Jan 2017
Wang Lixin, Huang Chunyan, Wei Zengzhen, Tan Jinzhe, Qin Li, Tian Li
Abstract excerpt
BACKGROUND: The para-Bombay phenotype often results from a silenced β-D-galactoside 2-α-fucosyltransferase 1 (FUT1) gene (h/h) but an active FUT2 (Se/Se or Se/se) gene. We identified a para-Bombay phenotype with two novel mutations in the FUT1 gene and homozygous mutated FUT2 (se357, 385 /se357, 385 ) genes. STUDY DESIGN AND METHODS: Red blood cell phenotype was detected by using a standard serologic technique....
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