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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...

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Detalles Bibliográficos
Autores principales: Purvis, Tracey L., Hearn, Tom, Spalluto, Cosma, Knorz, Victoria J., Hanley, Karen Piper, Sanchez-Elsner, Tilman, Hanley, Neil A., Wilson, David I.
Formato: Texto
Lenguaje:English
Publicado: Elsevier/North-Holland 2010
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