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Table 7 Comparison between results obtained from the sample included in the present report with the global results for our total series.

From: Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations

  PRESENT REPORT SAMPLE TOTAL SERIES#
  0 MUT 1 MUT 2 MUT 1 + 2 MUT* 0 MUT 1 MUT 2 MUT 1 + 2 MUT*
USH2 43.1% (25/58) 22.4% (13/58) 34.5% (20/58) 56.9% (33/58) 23.9% (32/134) 16.4% (22/134) 59.7% (80/134) 76.1% (102/134)
USHA 54.5% (6/11) 18.2% (2/11) 27.3% (3/11) 45.5% (5/11) 33.3% (8/24) 25% (6/24) 41.6% (10/24) 66.7% (16/24)
USHNC 73.7% (14/19) 15.8% (3/19) 10.5% (2/19) 26.3% (5/19) 64% (16/25) 12% (3/25) 24% (6/25) 36% (9/25)
TOTAL 51.1% (45/88) 20.5% (18/88) 28.4% (25/88) 48.9% (43/88) 30.6% (56/183) 16.9% (31/183) 52.5% (96/183) 69.4% (127/183)
  1. We consider as a mutation (MUT) only those clearly pathogenic. If we also consider UV3, the total figures in the present report sample are 51.1% (45/88); 17% (15/88); 31.9% (28/88) and 48.9% (43/88) for 0 MUT, 1 MUT, 2 MUT and 1 + 2 MUT respectively.
  2. * Percentage of patients with at least one mutation in USH2A: patients with only one mutation + patients with 2 mutations (1MUT + 2MUT).
  3. # TOTAL SERIES represents the global results obtained from this, together with previous studies [19,9,23,32, unpublished data and present work]