Abstract

<p>For primers, see <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0121351#pone.0121351.s004" target="_blank">S2 Table</a>. L1-L6: using AS primer for wild type. L7-L12: using AS primer for mutant. L1/7: Mother. L2/8: Father. L3/9: PLS Proband. L4/10: PLS Affected brother. L5/11: Unaffected sibling—homozygous for <i>CTSC</i> wild type allele. L6/12: PCD affected sibling who is a carrier for PLS. Ladder’s three bands are 100bp (bottom), 200bp and 300bp (top).</p

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