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. Author manuscript; available in PMC: 2011 Nov 1.
Published in final edited form as: Hum Mutat. 2010 Oct 14;31(11):1261–1268. doi: 10.1002/humu.21356

Figure 2.

Figure 2

Slit lamp biomicroscopy and retroillumination photographs of affected individuals of family “WO”. A & C) individual 01, B & D individual 03. The image in the box is magnified on the right side. The arrow points to the guttae present in the cornea. E) Sequence analysis illustrating the segregation of pathogenic mutation, c.2224G>A. SLC4A11 harbors a glycine (GGA) at position 742; the G>A transition results in a glycine to arginine (AGA) substitution. Squares: males; circles: females; filled symbols: affected individuals; symbol with a dot in the middle: individual(s) with traces bilaterally, and diagonal line through a symbol: a deceased family member.