Article
Correlation of a missense mutation in the human Secretor alpha 1,2-fucosyltransferase gene with the Lewis(a+b+) phenotype: a potential molecular basis for the weak Secretor allele (Sew).
The Biochemical journal - 1 Dec 1995
Yu L C, Yang Y H, Broadberry R E, Chen Y H, Chan Y S, Lin M
Abstract excerpt
A missense mutation (A385 to T), predicting an Ile129 to Phe substitution, in the human Secretor alpha 1,2-fucosyltransferase gene was present in double dose in Lewis(a+b+) individuals, but not in Lewis(a-b+) individuals. Co-segregation of the Lewis(a+b+) phenotype with homozygosity for the mutat...
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