Table 2 of
Sweeney, Mol Vis 2007;
13:588-593.Table 2 of
Sweeney, Mol Vis 2007;
13:588-593.
Table 2. Sequence changes found in LRAT
Six sequence changes in LRAT were found among 11 autosomal recessive retinitis pigmentosa patients and 2 Leber congenital amaurosis patients.
Exon Sequence change Number of heterozygotes (patient IDs) Number of homozygotes
---- --------------------- ------------------------------------------- ---------------------
1 5'UTR-15C>T 2 ARRP (003-147, 003-185) 0
1 IVS1+7A>C 2 ARRP (003-069, 003-161) 0
1 IVS1+13G>T 1 ARRP (003-178) 0
1 5'UTR-156C>G 1 ARRP (003-182) 0
2b Glu114Glu c.342G>A 4 ARRP (003-089, 003-197, 003-285, 003-371) 1 ARRP (003-228)
+ 2 LCA (048-020, 048-065)
3 3'UTR+3T>G 1 ARRP (003-064) 0
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