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

Cao H., Williams C., Carter M., Hegele R.A.

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.

J. Hum. Genet. 49:61-63(2004) [PubMed] [Europe PMC]

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