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Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls
Cornelia de Lange syndrome (CdLS) is a rare multisystem disorder characterized by facial dysmorphisms, limb anomalies, and growth and cognitive deficits. Mutations in genes encoding subunits (SMC1A, SMC3, RAD21) or regulators (NIPBL, HDAC8) of the cohesin complex account for approximately 65% of cli...
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| Huvudupphovsmän: | , , , , , , , , , , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
Landes Bioscience
2014
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4143412/ https://ncbi.nlm.nih.gov/pubmed/24756084 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4161/epi.28903 |
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