ALS Compendium

Title: Sequestosome-1 ( SQSTM1 ) sequence variants in ALS cases in the UK : prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB

Year Published: 2013

Observation: Identified 6 candidate exonic variants including a novel Glu155lys mutation and 2 novel intronic variants in fALS index cases

Comment: Confirmed presence of Pro392Leu SQSTM1 mutation in fALS (most common SQTSM1 mutation in ALS to date)

Citation: 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

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