Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A

There are two genetics complementary groups Cockayne syndrome type A and B (CS-A and CS-B OMIM 216400, 133540), which is a rare autosomal recessive segmental progeroid syndrome. Homozygous or compound heterozygous mutations in the excision repair cross-complementation group 8 gene (ERCC8) result in...

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Detalles Bibliográficos
Autores principales: Wang, Xiaozhu, Huang, Yu, Yan, Ming, Li, Jiuwei, Ding, Changhong, Jin, Hong, Fang, Fang, Yang, Yanling, Wu, Baiyan, Chen, Dafang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5651726/
https://www.ncbi.nlm.nih.gov/pubmed/29057985
http://dx.doi.org/10.1038/s41598-017-14034-3

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