RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome.
Smith-Magenis Syndrome (SMS) is a complex genomic disorder mostly caused by the haploinsufficiency of the Retinoic Acid Induced 1 gene (RAI1), located in the chromosomal region 17p11.2. In a subset of SMS patients, heterozygous mutations in RAI1 are found. Here we investigate the molecular propertie...
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| Principais autores: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Public Library of Science (PLoS)
2012-01-01
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| Series: | PLoS ONE |
| Acceso en liña: | http://europepmc.org/articles/PMC3445574?pdf=render |
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