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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 RA |
Published Jan. 1, 2004 in J Hum Genet volume 49 .
Pubmed ID: 14661080
Abstract:
| 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. |
This publication refers to following REPAIRtoire entries:
| Proteins |
Last modification of this entry: Oct. 6, 2010
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