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Mutation Analysis of ESRRB in Additional DFNB35 Families
Pedigrees of families PKDF191, PKDF159, and PKDF327 in which linkage to the DFNB35 locus was suggested. Sequence traces of ESRRB carrying the respective nucleotide substitutions c.329C→T, c.959T→C, and c.1040C→T from an affected and normal-hearing individual of these families are shown below the pedigrees. The predicted amino acid substitutions are p.A110V, p.L320P, and p.L347P, respectively.
