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Identification of Two Novel ERCC6 Mutations in Old Order Amish with Cockayne Syndrome
Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by progressive multisystem degeneration and segmental premature aging. Mutations in the DNA repair gene ERCC6 are responsible for the majority of CS cases reported. In this study, we identified 4 patients presenting with CS...
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| Main Authors: | , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
S. Karger AG
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3569105/ https://ncbi.nlm.nih.gov/pubmed/23599700 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000345924 |
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