Disorders of nucleotide excision repair.

doi:10.1016/B978-0-444-59565-2.00032-0

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Article

Disorders of nucleotide excision repair.

Handbook of clinical neurology - 1 Jan 2013

Rapin Isabelle

Abstract excerpt

Deficient repair of ubiquitous errors in the genome risks faulty transcription or replication. Its direct and indirect phenotypic consequences are rare, complex, dementing, lethal disorders of children with inadequately understood overlapping genotypes and variable severity. Mutations of CSA or CSB responsible for impaired transcription-coupled repair cause Cockayne syndrome (CS). Its characteristics are (1)...

Topics

DNA Repair
DNA Repair-Deficiency Disorders
Humans
Phenotype

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