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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

CKN1 ( MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism.

We found that a subject with Cockayne syndrome type A was a compound heterozygote for two new mutations in CKN1 ( MIM 216400): a missense mutation (A205P) and a nonsense (E13X) mutation. We also identified and characterized a new common single nucleotide polymorphism in CKN1 in five groups.[1]

References

  1. CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism. Cao, H., Williams, C., Carter, M., Hegele, R.A. J. Hum. Genet. (2004) [Pubmed]
 
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