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Table 3 Comparisons of NF1 mutation spectra between Chinese and patients from other parts of the world

From: Clinical characteristics and mutation Spectrum of NF1 in 12 Chinese families with orbital/periorbital plexiform Neurofibromatosis type 1

  Chinese patients (n = 14) Korean patients (n = 52) Italian patients (n = 73) p1 p2
Novelty     0.395 0.591
Reported 8(57.1) 36(69.2) 36(49.3)   
Novel 6(42.8) 16(30.8) 37(50.7)   
Single-base mutation 6(42.9) 30(57.7) 49(67.1) 0.322 0.085
Nonsense 3(21.4) 10(19.2) 6(8.2) 0.854 0.137
Missense 3(21.4) 20(38.5) 43(58.9) 0.235 0.010*
Splicing mutation 4(28.6) 8(15.4) 18(24.7) 0.256 0.758
Intron 1(7.14) / / NA NA
Frameshift deletion 3(21.4) 8(15.4) 18(24.7) 0.590 0.796
Insertion 0(0) 3(5.8) 1(1.4) 0.358 0.660
  1. Data are presented as n(%)
  2. *Statistically significant; p1: Chinese versus Korean patients [17]; p2: Chinese versus Italian patients [16]