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Schematic representation of the c.2846T>C; p.Ile949Thr mutation together with sequence and segregation analyses. (a) A 1.2-Mb region at 17p13.1 including gene GUCY2D. Mutation c.2846T>C in exon 15 corresponds to a missense change (p.Ile949Thr) in the catalytic domain. Untranslated regions are indicated with open boxes. (b) Partial chromatograms showing c.2846T>C transition. (c) SSCP results for c.2846T>C screening in the family and four controls (C1–C4).
