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Identification of Two Missense Mutations of ERCC6 in Three Chinese Sisters with Cockayne Syndrome by Whole Exome Sequencing
Cockayne syndrome (CS) is a rare autosomal recessive disorder, the primary manifestations of which are poor growth and neurologic abnormality. Mutations of the ERCC6 and ERCC8 genes are the predominant cause of Cockayne syndrome, and the ERCC6 gene mutation is present in approximately 65% of cases....
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| I publikationen: | PLoS One |
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| Huvudupphovsmän: | , , , , , , , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
Public Library of Science
2014
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4252064/ https://ncbi.nlm.nih.gov/pubmed/25463447 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0113914 |
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