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Article

Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.

American journal of human genetics - 1 Jan 1998

Mallery D L, Tanganelli B, Colella S, Steingrimsdottir H, van Gool A J, Troelstra C, Stefanini M, Lehmann A R

Abstract excerpt

Cockayne syndrome is a multisystem sun-sensitive genetic disorder associated with a specific defect in the ability to perform transcription-coupled repair of active genes after UV irradiation. Two complementation groups (CS-A and CS-B) have been identified, and 80% of patients have been assigned to the CS-B complementation group. We have analyzed the sites of the mutations in the CSB gene in 16 patients, to...

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Source

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Identifiers

PMID: 9443879
DOI: 10.1086/301686
PMCID: PMC1376810

Genes

ERCC6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.PMID 9443879Read ↗

The identification and analysis of mutation in the Cockayne Syndrome B geneSemantic proximity Read ↗

Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B.Semantic proximity Read ↗

Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.Semantic proximity Read ↗

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.Semantic proximity Read ↗

Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity.Semantic proximity Read ↗

Insights Into Cockayne Syndrome Type B: What Underlies Its Pathogenesis?Semantic proximity Read ↗

Cockayne syndrome: the expanding clinical and mutational spectrum.Semantic proximity Read ↗

Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition.Semantic proximity Read ↗

Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum.Semantic proximity Read ↗

Differential requirement for the ATPase domain of the Cockayne syndrome group B gene in the processing of UV-induced DNA damage and 8-oxoguanine lesions in human cells.Semantic proximity Read ↗

Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome.Semantic proximity Read ↗

Global genome repair of 8-oxoG in hamster cells requires a functional CSB gene product.Semantic proximity Read ↗

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