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- W2007458840 abstract "Abstract Objective: Definition of the molecular basis of the Reunion and the Bombay red cell and salivary H‐deficient phenotypes. Methods: Sequence and expression of FUT1 and FUT2 genes from H‐deficient individuals. Family segregation analysis of the mutations responsible for the fucosyltransferase defects of H, secretor and Lewis systems. Results: The Indian red cell H null Bombay phenotype depends on a new mutation of the FUT1 gene. T725→G changing Leu242→Arg. Their salivary nonsecretor phenotype is secondary to a complete deletion of the FUT2 gene. The red cell H weak Reunion phenotype depends on another new mutation of FUT1, C349→T which induces a change of His117→Tyr. Their salivary nonsecretor phenotype is due to the known Caucasian inactivating mutation G428→A. Conclusion: Single prevalent FUT1 and FUT2 point mutations and a deletion are responsible for the Indian Bombay H null and the Reunion H weak phenotypes found on Reunion island. This is in contrast with other H‐deficient phenotypes where sporadic nonprevalent inactivating mutations are the rule." @default.
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- W2007458840 date "1998-09-01" @default.
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- W2007458840 title "Point Mutations and Deletion Responsible for the <i>Bombay</i> H null and the <i>Reunion</i> H weak Blood Groups" @default.
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- W2007458840 doi "https://doi.org/10.1046/j.1423-0410.1998.7510037.x" @default.
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