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. Author manuscript; available in PMC: 2014 Feb 22.
Published in final edited form as: J Med Genet. 2013 Jul 11;50(10):674–688. doi: 10.1136/jmedgenet-2013-101558

Table 2.

Number of pathogenic mutations identified in this study

Reported Novel Total
LCA and juvenile RP genes 30 38 68
Retinal disease genes inconsistent with initial
diagnosis		 8 7 15
Total 38 45 83

LCA, Leber congenital amaurosis; RP, retinitis pigmentosa.