Summary of XPA p.R228* nonsense founder variant in 49 North African XP-A patients.

<p><sup>a</sup>Neurological severity was assessed using our neurological abnormality scoring scale in <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1011265#pgen.1011265.t001" target="_blank">Table 1</a>. “Unknown” indicates patients under age 10 years or with insufficient information to classify. <sup>b</sup>Number of patients classified. <sup>c</sup>Age of patients classified. <sup>d</sup>One intermediate patient died at age 35 years from neurological degeneration and multiple organ failure. <sup>e</sup>One intermediate patient died at age 32 years from pneumonia <sup>f</sup>Ref [<a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1011265#pgen.1011265.ref027" target="_blank">27</a>]. <b>UDS</b>: unscheduled DNA synthesis <b>D</b><sub><b>37</b></sub>: dose that results in 37% cell survival after UVC irradiation <b>LD</b><sub><b>50</b></sub>: median lethal dose <b>RRS</b>: recovery of RNA synthesis after DNA damage</p> <p>(DOCX)</p>