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See Latest ArticlesSpectrum and consequences of SMC1A mutations: The unexpected involvement of a core component of cohesin in human disease
Human Mutation, 10/29/09
Mannini L et al. – The mutations involve all domains of the protein but appear to cluster in key functional loci. At the functional level, elucidation of the effects that specific SMC1A mutations have on cohesin activity will be necessary to understand the etiopathology of CdLS and its possible involvement in tumorigenesis. The authors summarize the current knowledge of SMC1A mutations.
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