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Examples of direct sequence analysis of patient DNA. A, The missense substitution E2771K, caused by G→A transition at position 8522 nt. B, Two nonsense mutations S225X and Q227X, caused by C→A and C→T substitutions at positions 885 and 890 nt, respectively. C, Normal and patient DNA with the mutation F1992L, 1993delT, caused by a single codon deletion, 6187del3. Note the double peak at the site of a substitution (A and B) and continued double peaks after the deletion (C).
