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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Auteurs principaux: | Xiaozhu Wang, Yu Huang, Ming Yan, Jiuwei Li, Changhong Ding, Hong Jin, Fang Fang, Yanling Yang, Baiyan Wu, Dafang Chen |
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Format: | article |
Langue: | EN |
Publié: |
Nature Portfolio
2017
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Accès en ligne: | https://doaj.org/article/278836e6d2f0445d842423f8b3b59bd9 |
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