Table 1 Ratio of genotype of Vietnamese citrin deficiency cohort patients
Genotype | Tested patients | Frequency |
|---|---|---|
(N = 292) | (%) | |
Homozygote I/I | 247 | 84.59% |
Homozygote XIX/XIX | 2 | 0.68% |
Compound heterozygous I/III | 4 | 1.37% |
Compound heterozygous I/X | 8 | 2.74% |
Compound heterozygous I/XIX | 17 | 5.82% |
Compound heterozygous I/M1T | 4 | 1.37% |
Compound heterozygous I/ L45F | 1 | 0.34% |
Compound heterozygous I/ R467* | 3 | 1.03% |
Compound heterozygous I/ II | 3 | 1.03% |
Compound heterozygous p.V411M/p.R588Q | 1 | 0.34% |
Compound heterozygous I/p.[N652K;F654Lfs*45] | 1 | 0.34% |
Compound heterozygous I/ (p.Y24_72Ifs*10) | 1 | 0.34% |
