3 Result(s)
within
Tsutomu Toki
Biomedicine
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Article
Correction: Corrigendum: The landscape of somatic mutations in Down syndrome–related myeloid disorders
Nat. Genet. 45, 1293–1299 (2013); doi:10.1038/ng.2759; published online 22 September 2013; corrected after print 30 October 2013 In the version of this article initially published, the discussion of cited refe...
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Article
The landscape of somatic mutations in Down syndrome–related myeloid disorders
Seishi Ogawa and colleagues report the landscape of somatic mutations in Down syndrome–related myeloid disorders. They identify recurrent mutations in multiple cohesin components, CTCF and epigenetic regulators i...
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Article
Three novel mutations of the fibrillin-1 gene and ten single nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome patients
Marfan syndrome (MFS) is an autosomal dominant disorder of the extracellular matrix. Allelic variations in the gene for fibrillin-1 (FBN1) have been shown to cause MFS. To date, over 550 mutations have been ident...
