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Article

Three novel mutations responsible for Cockayne syndrome group A.

Genes & genetic systems - 1 Feb 2003

Ren Yan, Saijo Masafumi, Nakatsu Yoshimichi, Nakai Hiroshi, Yamaizumi Masaru, Tanaka Kiyoji

Abstract excerpt

Cockayne syndrome (CS) is a rare autosomal recessive disease, which shows diverse clinical symptoms such as photosensitivity, severe mental retardation and developmental defects. CS cells are hypersensitive to killing by UV-irradiation and defective in transcription-coupled repair. Two genetic complementation groups in CS (CS-A and CS-B) have been identified. We analyzed mutations of the CSA gene in 5 CS-A...

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Source

Identifiers

PMID: 12655141
DOI: 10.1266/ggs.78.93

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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