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Mental retardation, deafness, ankylosis, and altered bone metabolism cosegregates with homozygous ANKH mutation c.731T→C. A, Electropherogram showing the ANKH mutation c.731T→C in the heterozygous (het) and homozygous (hom) state. On the protein level, the mutation caused the amino acid substitution p.L244S. B, Alignment of ANK protein sequences of various species demonstrated that the p.L244S substitution affects an evolutionarily conserved amino acid. wt, Wild type.
