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: | , , , , , , , , , |
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| Format: | article |
| Langue: | EN |
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Nature Portfolio
2017
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| Accès en ligne: | https://doaj.org/article/278836e6d2f0445d842423f8b3b59bd9 |
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