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Article

A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome.

Neuroscience - 14 Apr 2007

Kleppa L, Kanavin Ø J, Klungland A, Strømme P

Abstract excerpt

Cockayne syndrome (CS) is mainly caused by mutations in the Cockayne syndrome group A or B (CSA or CSB) genes which are required for a sub-pathway of nucleotide excision repair entitled transcription coupled repair. Approximately 20% of the CS patients have mutations in CSA, which encodes a 44 kDa tryptophane (Trp, W) and aspartic acid (Asp, D) amino acids (WD) repeat protein. Up to now, nine different CSA...

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Source

Identifiers

PMID: 17084038
DOI: 10.1016/j.neuroscience.2006.09.025

Genes

ERCC8

Provenance

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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