Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1.

Notably, the isoform II/isoform I ratio was higher in patients with severe phenotype althought it did not reach statistical significance (Table 2 ), suggesting a possible contribution of altered transcript processing to phenotypic expressivity.

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This is an extremely significant observation since the LD/CD phenotype has profound implications for the management of the disease, especially in early age, and the identification of predictive markers might be useful for the clinical management of these patients [ 37 ].

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