|  | Control | Carrier | p.Ser8LysfsX23 | p.Glu134Lys | p.Leu228X | p.Ser230Leu | p.Tyr277Cys | p.Arg288Met |
---|---|---|---|---|---|---|---|---|---|
n | Â | 4 | 8 | 2 | 2 | 1 | 2 | 1 | 2 |
Type | Â | Â | Â | II | II | I | II,III | II | I,II |
fl -SMN1 | Mean ± SD | 26.49 ± 13.88 | 185.71 ± 148.00 | 0.61 ± 0.30 | 6.30 ± 2.02 | 1.57 ± 0.38 | 3.54 ± 0.95 | 7.19 ± 2.72 | 0.05 ± 0.10 |
 | Min-Max | 11.16-50.8 | 29-470 | 0.22-0.95 | 3.58-8.26 | 1.24-1.98 | 2.94-4.64 | 4.90-10.20 | 0-0.19 |
GAPDH | Mean ± SD | 2322.2 ± 1174.9 | 4857.3 ± 2452.5 | 3720 ± 1969 | 2742 ± 829.4 | 3247 ± 1079 | 1695 ± 456 | 8173 ± 2957 | 3002 ± 1801 |
 | Min-Max | 1232-4700 | 1976-8660 | 2000-6500 | 1788-3680 | 2040-4120 | 1388-2220 | 5340-11240 | 1315-5300 |
corrected fl -SMN1 | Mean ± SD | 23.77 ± 7.74 | 9.47 ± 5.39 | 0.52 ± 0.46 | 4.59 ± 0.68 | 1.04 ± 0.39 | 4.18 ± 0.20 | 2.01 ± 0.89 | 0.07 ± 0.15 |
 | Min-Max | 15.92-34.74 | 1.05-18.73 | 0.15-1.15 | 3.98-5.29 | 0.69-1.46 | 3.98-4.38 | 1.23-2.98 | 0-0.29 |
P value (t-test) | Â | - | 0.000 a | 0.000b | 0.094b | 0.000b | 0.11b | 0.032b | 0.000b |