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Table 1 HJV missense mutations in Alabama adult subjects from the general population.1

From: Allele frequencies of hemojuvelin gene (HJV) I222N and G320V missense mutations in white and African American subjects from the general Alabama population

HJV mutation

I222N

G320V

Whites tested, n

240

241

Whites with mutation, n

1 (heterozygote)

0

Allele frequency (95% CI)

0.0021 (0, 0.0062)

0 (0, ~0.00006)

African Americans tested, n

124

118

African Americans with mutation, n

0

0

Allele frequency (95% CI)

0 (0, ~0.00012)

0 (0, ~0.00013)

  1. 1 HJV mutations were detected using PCR-RFLP technique. DNA specimens from the parents of a white juvenile hemochromatosis index case were used as positive controls for HJV I222N and G320V [3]. CI = confidence interval.