Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome-Reference-Cited by-同舟云学术

Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome

Published:2018-02-08 Issue:4 Volume:26 Page:527-536
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Schalk Audrey^ORCID,Greff Géraldine,Drouot Nathalie,Obringer Cathy,Dollfus Hélène,Laugel Vincent,Chelly Jamel,Calmels Nadège

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s41431-017-0009-y.pdf

Reference29 articles.

1. Kleijer WJ, Laugel V, Berneburg M, et al. Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. DNA Repair. 2008;7:744–50.

2. Laugel V. Cockayne syndrome: the expanding clinical and mutational spectrum. Mech Ageing Dev. 2013;134:161–70.

3. Wilson BT, Stark Z, Sutton RE, et al. The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. Genet Med. 2016;18:483–93.

4. Mayne LV, Lehmann AR. Failure of RNA synthesis to recover after UV irradiation: an early defect in cells from individuals with Cockayne’s syndrome and xeroderma pigmentosum. Cancer Res. 1982;42:1473–8.

5. Schmickel RD, Chu EH, Trosko JE, Chang CC. Cockayne syndrome: a cellular sensitivity to ultraviolet light. Pediatrics. 1977;60:135–9.

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