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Nonsense and frameshift mutations. A, Sequence data of the nonsense R93X mutation. B, Results showing the presence of R93X after AvaII restriction enzyme digestion. The presence of the mutation destroys a restriction site. ND = not digested; M = mutated; N = normal. C, Electrophoretic results showing the presence of the 349-350insCTT mutation. Fluorescent primers were designed and used for detecting the presence of the insertion in a 3100 ABI Prism Capillary Electrophoresis.
