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

Henian Cao1, Christina Williams1, Monica Carter1

  • 1Robarts Research Institute, London, Ontario, N6A 5K8, Canada.

Journal of Human Genetics
|December 9, 2003
PubMed

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Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
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