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SMN transcript and SMN protein levels in patient 1. (a) The levels of FL-SMN1, FL-SMN2, and SMN▵7 transcript did not differ between blood cells and skin fibroblasts; FL-SMN1 transcript levels were near the limit of detection. (b) Semiquantitative detection of SMN protein in skin fibroblasts of patient 1. SMN protein expression was very low, only 22% of control levels (two normal individuals carrying two copies of SMN1 gene and two SMN2).
