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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Bibliographische Detailangaben
Hauptverfasser: Carmona-Mora, Paulina, Canales, Cesar P., Cao, Lei, Perez, Irene C., Srivastava, Anand K., Young, Juan I., Walz, Katherina
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2012
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3445574/
https://ncbi.nlm.nih.gov/pubmed/23028815
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0045155
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