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Fig. S1. Analysis of splicing mutations performed on RNA extracted from lymphoblastoid cell lines . On the left, reverse transcription polymerase chain reaction (PCR) of exons 12 through 16. The lanes are as follows: patient 5 and patient 6, C (control) and M (ΦX174 DNA/HaeIII, Marker 9). On the right, DNA sequence of the PCR product extracted from the shorter transcript revealing absence of exons 14 for both.

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