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| Case no. | Sex | Age | ARSA A (leukocytes) (mu/mg protein) | Amino acid change | Nucleotide change | Zygosity |
|---|---|---|---|---|---|---|
| 1 | Female | 2yr 6mo | 0.039(0.375-1.815) | Gly357Val | c.1070 G > T | Homo |
| 2 | Female | 2yr 4mo | 0.031(0.375-1.815) | Gly357Val | c.1070 G > T | Homo |
| 3 | Male | 2yr | 0.030(0.375-1.815) | Gly357Val | c.1070 G > T | Homo |
