Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome

BACKGROUND: Smith-Magenis Syndrome is a contiguous gene syndrome in which the dosage sensitive gene has been identified: the Retinoic Acid Induced 1 (RAI1). Little is known about the function of human RAI1. RESULTS: We generated the full-length cDNA of the wild type protein and five mutated forms: R...

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Main Authors: Carmona-Mora, Paulina, Encina, Carolina A, Canales, Cesar P, Cao, Lei, Molina, Jessica, Kairath, Pamela, Young, Juan I, Walz, Katherina
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2010
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2939504/
https://ncbi.nlm.nih.gov/pubmed/20738874
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2199-11-63
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