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A: Fragment D for patients #233 and #411, with mutations IVS12-2 A>C and IVS12-1 G>A, respectively. No alterations were found initially.
B: Fragment E is an amplification of Fragment D. A weak small fragment (asterisk) was found in a shorter fragment E of length 61 bp covering the junction of exons 12 and 13 (see Methods section), in patient 233. Sequencing revealed an 8 bp deletion.
