Identification of a novel FUT1 allele with two mutations in a Chinese para-Bombay individual

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• 作者：Lixin Wang ; Chunyan Huang ; Zengzhen Wei ; Jinzhe Tan ; Li Qin and Li Tian
• 刊名：Transfusion
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：57
• 期：1
• 页码：93-96
• 全文大小：65K
• ISSN：1537-2995

文摘

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 (se^{357, 385}/se^{357, 385}) genes.