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Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss.
Klein CJ, Botuyan MV, Wu Y, Ward CJ, Nicholson GA, Hammans S, Hojo K, Yamanishi H, Karpf AR, Wallace DC, Simon M, Lander C, Boardman LA, Cunningham JM, Smith GE, Litchy WJ, Boes B, Atkinson EJ, Middha S, B Dyck PJ, Parisi JE, Mer G, Smith DI, Dyck PJ. Klein CJ, et al. Among authors: wu y. Nat Genet. 2011 Jun;43(6):595-600. doi: 10.1038/ng.830. Epub 2011 May 1. Nat Genet. 2011. PMID: 21532572 Free PMC article.
Novel SOD1 mutation discovered in atypical ALS by whole exome sequencing.
Klein CJ, Wu Y, Duan X, Middha S, Dawson BD, Kocher JP, Dyck PJ. Klein CJ, et al. Among authors: wu y. J Neurol Neurosurg Psychiatry. 2013 Aug;84(8):943-4. doi: 10.1136/jnnp-2013-305400. Epub 2013 Jun 6. J Neurol Neurosurg Psychiatry. 2013. PMID: 23744890 Free PMC article. No abstract available.
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