Article
Identification of two functionally deficient plasma alpha 3-fucosyltransferase (FUT6) alleles.
Human mutation - 1 Dec 2000
Elmgren A, Börjeson C, Mollicone R, Oriol R, Fletcher A, Larson G
Abstract excerpt
One Indonesian individual without detectable plasma alpha3-fucosyltransferase activity was identified with three point mutations, 730C>G (L244V), 907C>G (R303G), and 370C>T (P124S), in the coding region of one FUT6 allele. Another individual, expressing weak plasma alpha3-fucosyltransferase activity, had the 907C>G together with the 370C>T mutation, but did not have the 730C>G mutation. PCR-RFLP analyses of...
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