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Article

Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects.

Journal of human genetics - 1 Jan 2005

Ridley Andrew J, Colley James, Wynford-Thomas David, Jones Christopher J

Abstract excerpt

We report that a subject with Cockayne syndrome type A (CS3BE) was a compound heterozygote for mutations in CKN1, the gene encoding the CSA protein (MIM 216400). CS3BE displayed a novel missense mutation (A160V) and a previously described nonsense mutation (E13X). Although residing between the se...

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Source

Identifiers

PMID: 15744458
DOI: 10.1007/s10038-004-0228-2

Genes

XPC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15744458-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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