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RT-PCR analysis of the region spanning nebulin exons 162, 163, and 164 in the patient from family 4. The center lane shows that mRNA from the patient gave two abnormally spliced products, about 190 and 400 bp, respectively. Sequencing of the fragments revealed absence of exon 163 in the smaller fragment, and the larger fragment contained exon 163, as well as 100 bp of intron 163. Right lane, the expected 293-bp product from control mRNA; left lane, size marker φX174/HaeIII.
