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

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

Abstract 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) r...

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Bibliographic Details
Main Authors: Xiaozhu Wang, Yu Huang, Ming Yan, Jiuwei Li, Changhong Ding, Hong Jin, Fang Fang, Yanling Yang, Baiyan Wu, Dafang Chen
Format: Article
Language:English
Published: Nature Publishing Group 2017-10-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-017-14034-3

Internet

https://doi.org/10.1038/s41598-017-14034-3

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