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. 2002 Aug 26;71(4):724–738. doi: 10.1086/342717

Figure  2.

Figure  2

Sequence analysis of splicing mutations. A, Point mutation with eventual 4-base skipping in patient 15. The boundary sequences of exons 6 and 7 in the wild-type cDNA are shown in the lower boxes. The mutated nucleotide is underlined and annotated as indicated by arrows. The resultant cDNA sequence causing frameshift is shown in the upper box. B, Exon-skipping mutations found in patients 16 and 17. The boundary sequences of exons 2–4 in the wild-type cDNA are shown in the lower boxes. The mutated nucleotide(s) at the upstream boundary of intron 3 are underlined and annotated as indicated by arrows. The resultant cDNA sequence lacking exon 3 is shown in the upper box. RT-PCR was performed as described elsewhere (Zhang et al. 2000). Wt = wild type.