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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Hlavní autoři:	Paulina Carmona-Mora, Cesar P Canales, Lei Cao, Irene C Perez, Anand K Srivastava, Juan I Young, Katherina Walz
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Public Library of Science (PLoS) 2012-01-01
Edice:	PLoS ONE
On-line přístup:	http://europepmc.org/articles/PMC3445574?pdf=render
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