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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: | , , , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
BioMed Central
2010
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| Fag: | |
| Online adgang: | 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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