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. 2013 Sep 16;1(4):260–268. doi: 10.1002/mgg3.37

Figure 1.

Figure 1

The study design and outcome. Enzyme analysis and DNA analysis results are shown for all study participants. The white boxes show the number of positives, negatives, inconclusives, and the number of alleles for each mutation category. Note that a pseudoallele results in a false positive in the enzyme analysis, while a B1 variant produces a false-negative result. VUS, variant of unknown significance.