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J Med Genet 40:e114 doi:10.1136/jmg.40.10.e114
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The effect of sequence variations within the coding region of the C1 inhibitor gene on disease expression and protein function in families with hereditary angio-oedema

Table 5

Distribution of serum C1 inhibitor protein concentration in a population of 102 healthy individuals based on the Val458Met or t566c polymorphism

Allele Val458 homozygote Val/Met458 heterozygote Met458 homozygote
Number 45 48 9
Serum C1 inhibitor protein concentration/gL−1 Geometric mean (95% CI) 0.193 (0.182–0.206) 0.188 (0.179–0.198 0.175 (0.153–0.201)
Allele t566 homozygote t566c heterozygote c566 homozygote
Protein concentration was log normally distributed.
Number 94 8 0
Serum C1 inhibitor protein concentration/gL−1 Geometric mean (95% CI) 0.190 (0.182–0.199) 0.180 (0.159–0.204) n/a

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