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26.html
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<!DOCTYPE html>
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<p><strong>Title:</strong> Sequestosome-1 ( SQSTM1 ) sequence variants in ALS cases in the UK : prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB</p>
<p><strong>Year Published:</strong> 2013</p>
<p><strong>Observation:</strong> Identified 6 candidate exonic variants including a novel Glu155lys mutation and 2 novel intronic variants in fALS index cases</p>
<p><strong>Comment:</strong> Confirmed presence of Pro392Leu SQSTM1 mutation in fALS (most common SQTSM1 mutation in ALS to date)</p>
<p><strong>Citation:</strong> Kwok, C. T., Morris, A., & Belleroche, J. S. De. (2013). Sequestosome-1 ( SQSTM1 ) sequence variants in ALS cases in the UK : prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB. European Journal of Human Genetics, 22(4), 492–496. doi:10.1038/ejhg.2013.184</p>
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