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Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family
Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized principally by progressive growth failure, neurologic abnormality and premature aging. Mutations of excision repair cross-complementation group 6 (ERCC6) and ERCC8 are predominantly responsible for CS, of which mutation of E...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
D.A. Spandidos
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5436194/ https://www.ncbi.nlm.nih.gov/pubmed/28440418 http://dx.doi.org/10.3892/mmr.2017.6487 |