Article
Homozygous FUT1 Mutations Causing a Para-Bombay Phenotype: a Pedigree Investigation Report.
Clinical laboratory - 1 Oct 2021
He Yaozong, Lu Yanjun, Zhou Houquan, Lyu Yuhua, Liu Sijing, Gao Yunlong, Chao Yan, Wu Xinzhong, Liang Zheng
Abstract excerpt
BACKGROUND: Para-Bombay phenotype is rare in ABO blood group. We describe FUT1 mutations in a Chinese woman with the para-Bombay phenotype, including her familial inheritance. METHODS: ABO grouping, H antigen detection, absorptionelution test, salivary antigen substance detection, deter-mination of titer of ABH antibody, ABO genotyping, gene sequencing (FUT1,2), blood transfusion compatibility test, and pedigree...
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