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Identification of cis-regulatory sequence variations in individual genome sequences
Functional contributions of cis-regulatory sequence variations to human genetic disease are numerous. For instance, disrupting variations in a HNF4A transcription factor binding site upstream of the Factor IX gene contributes causally to hemophilia B Leyden. Although clinical genome sequence analysi...
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| Hauptverfasser: | , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BioMed Central
2011
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3239227/ https://ncbi.nlm.nih.gov/pubmed/21989199 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/gm281 |
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