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Article

Phenotypic consequences of mutations in the conserved motifs of the putative helicase domain of the human Cockayne syndrome group B gene.

Gene - 23 Jan 2002

Muftuoglu Meltem, Selzer Rebecca, Tuo Jingsheng, Brosh Robert M, Bohr Vilhelm A

Abstract excerpt

Cockayne syndrome (CS) is a human genetic disorder characterized by several neurological and developmental abnormalities. Two genetic complementation groups, CS-A and CS-B, have been identified. The CSB protein belongs to helicase superfamily 2, and to the SWI/SNF family of proteins. The CSB protein is implicated in transcription-coupled repair (TCR), basal transcription and chromatin remodeling. In addition, CS...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 11867210
DOI: 10.1016/s0378-1119(01)00870-8

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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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