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Article

Cockayne syndrome type A: novel mutations in eight typical patients.

Journal of human genetics - 1 Jan 2006

Bertola Debora R, Cao Henian, Albano Lilian M J, Oliveira Daniela P, Kok Fernando, Marques-Dias Maria Joaquina, Kim Chong A, Hegele Robert A

Abstract excerpt

Cockayne syndrome is a rare autosomal recessive neurodegenerative disorder. It is considered to be a heterogeneous condition based on complementation in cell fusion studies, with two major forms, namely CS-A and CS-B. CKN1 is the gene responsible for CS-A, whose mutations disrupt the transcriptio...

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PMID: 16865293
DOI: 10.1007/s10038-006-0011-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16865293-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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