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Table 2 Comparative analysis of the expression levels of NF1 isoforms I and II in peripheral blood leukocytes of NF1 patients and healthy controls stratified for the severity of the phenotype, and for the presence or absence of LD/MR. Mean value ±SE are reported

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

 NF1 patientsHealthy controlsP value
Total138138 
Isoform I0.00066 ± 0.00010.0012 ± 0.00075.47E-06
Isoform II0.0024 ± 0.0010.01 ± 0.0040.0004
Isoform II + I0.0029 ± 0.00020.019 ± 0.0030.0004
Isoform II/I4.39 ± 1.94.05 ± 1.30.5
 Patients with severe phenotypePatients with mild phenotype 
Total3636 
Isoform I0.0004 ± 0.00010.0008 ± 0.00010.002
Isoform II0.0017 ± 0.00180.0025 ± 0.0010.09
Isoform II + I0.0017 ± 0.0010.0029 ± 0.00020.6
Isoform II/I5.93 ± 1.73.92 ± 1.80.14
 Patients with LD/MRPatients without LD/MR 
Total2645 
Isoform I0.0004 ± 0.000090.0007 ± 0.00020.038
Isoform II0.0015 ± 0.00050.0024 ± 0.00080.11
Isoform II + I0.0019 ± 0.00030.0029 ± 0.00050.09
Isoform II/I4.92 ± 1.74.2 ± 1.80.60
 Pediatric patients with LD/MRPediatric patients without LD/MR 
Total2231 
Isoform I0.0001 ± 0.000080.0007 ± 0.00020.02
Isoform II0.0014 ± 0.00040.0026 ± 0.0010.10
Isoform II + I0.0015 ± 0.00030.0029 ± 0.0010.06
Isoform II/I4 ± 1.43.72 ± 1.60.88
  1. LD/CD learning disability/cognitive deficit