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Sequence analysis of the GJB2 gene. (a) Mutations R75Q (c.224G>A; p.Arg75Gln) and (b) V37I (c.109G>A; p.Val37Ile) are present in two family members, II-9 and III-3. Both family members are heterozygous for a G to A transition at position 109 and for a transition at position 224. (c) V37I and R75Q mutations are depicted in cDNA strand of human GJB2. (d) Single-strand PCR chromatograms of III-3 patient are presented. Note that V37I and R75Q are in the same strand.
