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Importantly, a panel of missense mutations is identified in the gene encoding p62, also known as sequestosome 1, in familial and sporadic ALS patients, supporting a key role for p62 in the pathogenesis of FTD/ALS [ 21].
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Nine different mutations were identified.
Mutations were identified most frequently in SOD1 (7.5%).
UL54 and UL97 gene mutations were identified by sequencing.
A total of 22 mutations were identified in mc251 compared to wild type mc2155.
The second gene in which MVID causing mutations were identified was STX3 [15].
In addition, increased frequency of alkylator-induced mutations was identified in NF-κB1 cells and mice.
Mutations were identified using software based on Polyphred [42].
Eight PIK3CA mutations were identified in exons nine and twenty.
Six non-synonymous mutations were identified for MTNR1A.
None of these mutations were identified in the controls.
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