Article
Homozygous expression of a missense mutation at nucleotide 385 in the FUT2 gene associates with the Le(a+b+) partial-secretor phenotype in an Indonesian family.
Biochemical and biophysical research communications - 27 Feb 1996
Henry S, Mollicone R, Fernandez P, Samuelsson B, Oriol R, Larson G
Abstract excerpt
A new point mutation was found in the coding sequence of the secretor FUT2 gene. This missense mutation with an A-->T substitution at nucleotide 385 resulted in an amino acid change of Ile129 to Phe129. This mutation showed a clear genetic trait in an Indonesian pedigree and, when appearing in a...
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