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

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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… Click to show full abstract

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.

Keywords: para bombay; fut1 allele; identification novel; novel fut1; two mutations; allele two

Journal Title: Transfusion
Year Published: 2017

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