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cDNA sequence of the human COLQ gene (GenBank accession no. AF057036) and truncation mutations in the patients. Mutations are underlined. The 107del215 mutation results from skipping of exons 2 and 3. Vertical lines indicate exon boundaries. The left and right columns show nucleotide and codon numbers from the translational start site. The 3′ untranslated region is not shown.
