Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family

Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized principally by progressive growth failure, neurologic abnormality and premature aging. Mutations of excision repair cross-complementation group 6 (ERCC6) and ERCC8 are predominantly responsible for CS, of which mutation of E...

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Detalles Bibliográficos
Autores principales: He, Chunxia, Sun, Mao, Wang, Guoxia, Yang, Ying, Yao, Libo, Wu, Yuanming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2017
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5436194/
https://www.ncbi.nlm.nih.gov/pubmed/28440418
http://dx.doi.org/10.3892/mmr.2017.6487

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5436194/
https://www.ncbi.nlm.nih.gov/pubmed/28440418
http://dx.doi.org/10.3892/mmr.2017.6487

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