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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
BACKGROUND: 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”. METHODS: We scree...
में बचाया:
| में प्रकाशित: | Orphanet J Rare Dis |
|---|---|
| मुख्य लेखकों: | , , , , , , , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
BioMed Central
2014
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4237947/ https://ncbi.nlm.nih.gov/pubmed/25231166 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0108-6 |
| टैग : |
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