Whole Exome Sequencing Identifies a Novel Homozygous Missense Mutation in the CSB Protein-Encoding ERCC6 Gene in a Taiwanese Boy with Cockayne Syndrome

Background: Cockayne syndrome (CS) is a rare form of dwarfism that is characterized by progressive premature aging. CS is typically caused by mutations in the excision repair cross-complementing protein group 6 (ERCC6) gene that encodes the CS group B (CSB) protein. Using whole exome sequencing, we...

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Detalles Bibliográficos
Autores principales: Lin, Ching-Ming, Yang, Jay-How, Lee, Hwei-Jen, Lin, Yu-Pang, Tsai, Li-Ping, Hsu, Chih-Sin, Luxton, G. W. Gant, Hu, Chih-Fen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8618937/
https://www.ncbi.nlm.nih.gov/pubmed/34833108
http://dx.doi.org/10.3390/life11111230

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8618937/
https://www.ncbi.nlm.nih.gov/pubmed/34833108
http://dx.doi.org/10.3390/life11111230

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