Table 2 of Rosenberg, Mol Vis 2007; 13:1962-1969.


Table 2. Distribution of potential disease-associated ABCA4 variants among 161 patients with Stargardt-related retinopathies

The table presents the overall results of the mutation screening. Complex alleles were counted as one mutation. At least one ABCA4 mutation was detected in 77% of the patients and in 61.2% of the alleles.

Mutations per   Number and percentage       Number of alleles with
 individual        of individuals       disease-causing  ABCA4 variants
-------------   ---------------------   -------------------------------
     0               37 (23.0)                        0
     1               51 (31.7)                        51
     2               67 (41.6)                       134
     3                6 (3.7)                         12
                ---------------------   ------------------------------
                    161 (100%)                       197 (61.2%)

Rosenberg, Mol Vis 2007; 13:1962-1969 <http://www.molvis.org/molvis/v13/a221/>
©2007 Molecular Vision <http://www.molvis.org/molvis/>
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