Table 2 of Rivolta, Mol Vis 2003; 9:49-51.


Table 2. Variants identified

Data are from the screening of 84 patients (168 alleles) with autosomal recessive RP (arRP) and 51 patients (102 alleles) with Leber congenital amaurosis (LCA). Normal controls (584 or 1102 alleles) are from Ayyagari et al. [16]. Statistical analysis by Fisher's exact test shows that all identified allelic frequencies are not significantly different between arRP patients and controls (p value 1), or between LCA patients and controls (p value 2).

                 arRP       LCA       Normal
Allele         patients   patients   controls   p value 1  p value 2
------------   --------   --------   --------   ---------  ---------
IVS3 -18 C>T     0/168      1/102      1/584      1.0        0.28
Ile267Thr        1/168      0/102     13/584      0.33       0.23
Met299Val       17/168     12/102    117/1102     1.0        0.74


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