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. 2011 Nov 24;52(12):9053–9060. doi: 10.1167/iovs.11-7978

Figure 3.

Figure 3.

Validation of Retina-Array data by dideoxy sequencing. Two examples of variations identified by the Retina-Array and validated by dideoxy sequencing. (A, B) Known variations (rs41317471, c.4586A>G, p.Asn1529Ser) identified in the HMCN1gene (NM_031935.2) in the heterozygous state in patient 17. (C, D) Novel variations (c.4161G>T, p.Glu1387Asp) identified in the CACNA1F gene (NM_005183.2) on the X chromosome in a hemizygous state in patient 6. (A, C) Resequencing chip data. (B, D) Dideoxy sequencing data. The highlighted base indicates the variation location.