Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families
A growing number of non-coding regulatory mutations are being identified in congenital disease. Very recently also some exons of protein coding genes have been identified to act as tissue specific enhancer elements and were therefore termed exonic enhancers or "eExons". We screened a cohor...
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| Hauptverfasser: | , , , , , , , , , , |
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| Format: | Artigo |
| Sprache: | Englisch |
| Veröffentlicht: |
2014
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| Online-Zugang: | https://doi.org/10.1186/s13023-014-0108-6 https://ojrd.biomedcentral.com/counter/pdf/10.1186/s13023-014-0108-6 |
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