Summary of XPA c.555+8A>G splicing founder variant in 16 Pakistani and Indian 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. <b>UDS</b>: unscheduled DNA synthesis <b>D</b><sub><b>37</b></sub>: dose that results in 37% cell survival after UVC irradiation</p> <p>(DOCX)</p>

Publication Details

Journal
Figshare
Published
2024-12-02
DOI
https://doi.org/10.1371/journal.pgen.1011265.s005
Primary Topic
DNA Repair Mechanisms
Type
article
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article

Summary of XPA c.555+8A>G splicing founder variant in 16 Pakistani and Indian XP-A patients.

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DNA Repair Mechanisms
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Summary of XPA c.555+8A>G splicing founder variant in 16 Pakistani and Indian XP-A patients.

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Abstract

<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. <b>UDS</b>: unscheduled DNA synthesis <b>D</b><sub><b>37</b></sub>: dose that results in 37% cell survival after UVC irradiation</p> <p>(DOCX)</p>

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DNA Repair Mechanisms
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Summary of XPA c.555+8A>G splicing founder variant in 16 Pakistani and Indian XP-A patients. · Figshare (2024) | TGRS Research Map | TGRS