The prevalence of the In(Lu) phenotype in the Japanese population was 0.02%, and we identified 13 known and 21 novel KLF1 alleles. The KLF1 mutations cause the reduced expression of the P1 antigen.
We identified three known and ten new silent KEL alleles from Japanese individuals with the K phenotype. The KEL allele with the c.299G>C (p.Cys100Ser) mutation was the most frequent.
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