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Article

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

Journal of human genetics - 1 Jan 2004

Cao Henian, Williams Christina, Carter Monica, Hegele Robert A

Abstract excerpt

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.

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Identifiers

PMID: 14661080
DOI: 10.1007/s10038-003-0107-2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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