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Transcriptional regulation of the Alström syndrome gene ALMS1 by members of the RFX family and Sp1
Mutations in the human gene ALMS1 cause Alström syndrome, a disorder characterised by neurosensory degeneration, metabolic defects and cardiomyopathy. ALMS1 encodes a centrosomal protein implicated in the assembly and maintenance of primary cilia. Expression of ALMS1 varies between tissues and recen...
Autores principales: | Purvis, Tracey L., Hearn, Tom, Spalluto, Cosma, Knorz, Victoria J., Hanley, Karen Piper, Sanchez-Elsner, Tilman, Hanley, Neil A., Wilson, David I. |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Elsevier/North-Holland
2010
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2913254/ https://www.ncbi.nlm.nih.gov/pubmed/20381594 http://dx.doi.org/10.1016/j.gene.2010.03.015 |
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