Article

The identification and analysis of mutation in the Cockayne Syndrome B gene

1999-01-01

Abstract excerpt

Cockayne Syndrome (CS) is a rare autosomal recessive disorder characterised by neurodegeneration, dwarfism and at least three of the following; hearing loss, dental caries, pigmentary retinopathy, characteristic facial appearance and photosensitivity. Cells from CS patients fail to recover RNA synthesis after irradiation and exhibit a loss of transcription-coupled repair, with overall genome repair being unaffecte...

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Literature Corpus work: 517656d1-5b2f-5531-bad7-b94c3d3c7e37
DOI: 10.21954/ou.ro.0000e27e

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